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About
What is Reactome ?
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Team
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Release Calendar
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Our Logo
License Agreement
Privacy Notice
Disclaimer
Digital Preservation
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Table of Contents
DOIs
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Docs
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FAQ
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Citing us
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Analyse gene expression
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Go!
KMT2D LOF variants (WRAD binding) [nucleoplasm]
Stable Identifier
R-HSA-9945024
Type
Set [CandidateSet]
Species
Homo sapiens
Compartment
nucleoplasm
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Disorders of Developmental Biology (Homo sapiens)
Loss of Function of KMT2D in Kabuki Syndrome (Homo sapiens)
Loss of Function of KMT2D in MLL4 Complex Formation in Kabuki Syndrome (Homo sapiens)
KMT2D LOF Variants Do Not Bind WRAD Complex Components (Homo sapiens)
KMT2D LOF variants (WRAD binding) [nucleoplasm] (Homo sapiens)
Participants
members
KMT2D H5059P [nucleoplasm]
(Homo sapiens)
KMT2D T5098P [nucleoplasm]
(Homo sapiens)
KMT2D G5189R [nucleoplasm]
(Homo sapiens)
KMT2D W5217R [nucleoplasm]
(Homo sapiens)
KMT2D R5340Q [nucleoplasm]
(Homo sapiens)
KMT2D E5425K [nucleoplasm]
(Homo sapiens)
KMT2D R5471M [nucleoplasm]
(Homo sapiens)
KMT2D Y5510D [nucleoplasm]
(Homo sapiens)
KMT2D R2635* [nucleoplasm]
(Homo sapiens)
KMT2D R3321* [nucleoplasm]
(Homo sapiens)
KMT2D R3707* [nucleoplasm]
(Homo sapiens)
KMT2D R5027* [nucleoplasm]
(Homo sapiens)
KMT2D E5008* [nucleoplasm]
(Homo sapiens)
KMT2D M999Yfs*69 [nucleoplasm]
(Homo sapiens)
KMT2D K1885Qfs*18 [nucleoplasm]
(Homo sapiens)
candidates
KMT2D H5059R [nucleoplasm]
(Homo sapiens)
KMT2D H5059Y [nucleoplasm]
(Homo sapiens)
KMT2D R5340L [nucleoplasm]
(Homo sapiens)
KMT2D R5471K [nucleoplasm]
(Homo sapiens)
KMT2D R5471S [nucleoplasm]
(Homo sapiens)
KMT2D R5471W [nucleoplasm]
(Homo sapiens)
KMT2D Y5510C [nucleoplasm]
(Homo sapiens)
KMT2D M999* [nucleoplasm]
(Homo sapiens)
KMT2D Q4103_Q4104delinsH* [nucleoplasm]
(Homo sapiens)
KMT2D C1403* [nucleoplasm]
(Homo sapiens)
KMT2D C2042* [nucleoplasm]
(Homo sapiens)
KMT2D C69* [nucleoplasm]
(Homo sapiens)
KMT2D E1072* [nucleoplasm]
(Homo sapiens)
KMT2D E1074* [nucleoplasm]
(Homo sapiens)
KMT2D E1171* [nucleoplasm]
(Homo sapiens)
KMT2D E156* [nucleoplasm]
(Homo sapiens)
KMT2D E1588* [nucleoplasm]
(Homo sapiens)
KMT2D E1663* [nucleoplasm]
(Homo sapiens)
KMT2D E1957* [nucleoplasm]
(Homo sapiens)
KMT2D E2476* [nucleoplasm]
(Homo sapiens)
KMT2D E3008* [nucleoplasm]
(Homo sapiens)
KMT2D E3046* [nucleoplasm]
(Homo sapiens)
KMT2D E3244* [nucleoplasm]
(Homo sapiens)
KMT2D E4316* [nucleoplasm]
(Homo sapiens)
KMT2D E4409* [nucleoplasm]
(Homo sapiens)
KMT2D E4481* [nucleoplasm]
(Homo sapiens)
KMT2D E455* [nucleoplasm]
(Homo sapiens)
KMT2D E4887* [nucleoplasm]
(Homo sapiens)
KMT2D E4935* [nucleoplasm]
(Homo sapiens)
KMT2D E4943* [nucleoplasm]
(Homo sapiens)
KMT2D E605* [nucleoplasm]
(Homo sapiens)
KMT2D E730* [nucleoplasm]
(Homo sapiens)
KMT2D E830* [nucleoplasm]
(Homo sapiens)
KMT2D E839* [nucleoplasm]
(Homo sapiens)
KMT2D E86* [nucleoplasm]
(Homo sapiens)
KMT2D G1823* [nucleoplasm]
(Homo sapiens)
KMT2D G1995* [nucleoplasm]
(Homo sapiens)
KMT2D I4440* [nucleoplasm]
(Homo sapiens)
KMT2D K1760* [nucleoplasm]
(Homo sapiens)
KMT2D K2096* [nucleoplasm]
(Homo sapiens)
KMT2D K2755* [nucleoplasm]
(Homo sapiens)
KMT2D K287* [nucleoplasm]
(Homo sapiens)
KMT2D K2985* [nucleoplasm]
(Homo sapiens)
KMT2D K4527* [nucleoplasm]
(Homo sapiens)
KMT2D K4768* [nucleoplasm]
(Homo sapiens)
KMT2D L2321* [nucleoplasm]
(Homo sapiens)
KMT2D L289* [nucleoplasm]
(Homo sapiens)
KMT2D L434* [nucleoplasm]
(Homo sapiens)
KMT2D N2025* [nucleoplasm]
(Homo sapiens)
KMT2D N4861* [nucleoplasm]
(Homo sapiens)
KMT2D P498* [nucleoplasm]
(Homo sapiens)
KMT2D Q1041* [nucleoplasm]
(Homo sapiens)
KMT2D Q117* [nucleoplasm]
(Homo sapiens)
KMT2D Q1185* [nucleoplasm]
(Homo sapiens)
KMT2D Q1402* [nucleoplasm]
(Homo sapiens)
KMT2D Q1703* [nucleoplasm]
(Homo sapiens)
KMT2D Q1717* [nucleoplasm]
(Homo sapiens)
KMT2D Q1755* [nucleoplasm]
(Homo sapiens)
KMT2D Q1893* [nucleoplasm]
(Homo sapiens)
KMT2D Q1922* [nucleoplasm]
(Homo sapiens)
KMT2D Q2004* [nucleoplasm]
(Homo sapiens)
KMT2D Q2166* [nucleoplasm]
(Homo sapiens)
KMT2D Q2208* [nucleoplasm]
(Homo sapiens)
KMT2D Q2341* [nucleoplasm]
(Homo sapiens)
KMT2D Q2473* [nucleoplasm]
(Homo sapiens)
KMT2D Q2682* [nucleoplasm]
(Homo sapiens)
KMT2D Q2693* [nucleoplasm]
(Homo sapiens)
KMT2D Q2796* [nucleoplasm]
(Homo sapiens)
KMT2D Q2876* [nucleoplasm]
(Homo sapiens)
KMT2D Q3274* [nucleoplasm]
(Homo sapiens)
KMT2D Q3277* [nucleoplasm]
(Homo sapiens)
KMT2D Q3279* [nucleoplasm]
(Homo sapiens)
KMT2D Q3312* [nucleoplasm]
(Homo sapiens)
KMT2D Q3322* [nucleoplasm]
(Homo sapiens)
KMT2D Q3340* [nucleoplasm]
(Homo sapiens)
KMT2D Q3341* [nucleoplasm]
(Homo sapiens)
KMT2D Q3364* [nucleoplasm]
(Homo sapiens)
KMT2D Q3400* [nucleoplasm]
(Homo sapiens)
KMT2D Q3453* [nucleoplasm]
(Homo sapiens)
KMT2D Q3460* [nucleoplasm]
(Homo sapiens)
KMT2D Q3499* [nucleoplasm]
(Homo sapiens)
KMT2D Q3518* [nucleoplasm]
(Homo sapiens)
KMT2D Q3524* [nucleoplasm]
(Homo sapiens)
KMT2D Q3604* [nucleoplasm]
(Homo sapiens)
KMT2D Q3605* [nucleoplasm]
(Homo sapiens)
KMT2D Q3609* [nucleoplasm]
(Homo sapiens)
KMT2D Q3667* [nucleoplasm]
(Homo sapiens)
KMT2D Q3683* [nucleoplasm]
(Homo sapiens)
KMT2D Q3717* [nucleoplasm]
(Homo sapiens)
KMT2D Q3735* [nucleoplasm]
(Homo sapiens)
KMT2D Q3755* [nucleoplasm]
(Homo sapiens)
KMT2D Q3756* [nucleoplasm]
(Homo sapiens)
KMT2D Q3759* [nucleoplasm]
(Homo sapiens)
KMT2D Q3764* [nucleoplasm]
(Homo sapiens)
KMT2D Q3774* [nucleoplasm]
(Homo sapiens)
KMT2D Q3799* [nucleoplasm]
(Homo sapiens)
KMT2D Q3821* [nucleoplasm]
(Homo sapiens)
KMT2D Q3839* [nucleoplasm]
(Homo sapiens)
KMT2D Q3842* [nucleoplasm]
(Homo sapiens)
KMT2D Q3860* [nucleoplasm]
(Homo sapiens)
KMT2D Q3878* [nucleoplasm]
(Homo sapiens)
KMT2D Q3892* [nucleoplasm]
(Homo sapiens)
KMT2D Q3898* [nucleoplasm]
(Homo sapiens)
KMT2D Q3901* [nucleoplasm]
(Homo sapiens)
KMT2D Q3904* [nucleoplasm]
(Homo sapiens)
KMT2D Q3910* [nucleoplasm]
(Homo sapiens)
KMT2D Q3911* [nucleoplasm]
(Homo sapiens)
KMT2D Q3915* [nucleoplasm]
(Homo sapiens)
KMT2D Q3916* [nucleoplasm]
(Homo sapiens)
KMT2D Q3919* [nucleoplasm]
(Homo sapiens)
KMT2D Q3924* [nucleoplasm]
(Homo sapiens)
KMT2D Q3934* [nucleoplasm]
(Homo sapiens)
KMT2D Q3936* [nucleoplasm]
(Homo sapiens)
KMT2D Q3938* [nucleoplasm]
(Homo sapiens)
KMT2D Q3943* [nucleoplasm]
(Homo sapiens)
KMT2D Q3949* [nucleoplasm]
(Homo sapiens)
KMT2D Q3950* [nucleoplasm]
(Homo sapiens)
KMT2D Q3951* [nucleoplasm]
(Homo sapiens)
KMT2D Q3956* [nucleoplasm]
(Homo sapiens)
KMT2D Q3961* [nucleoplasm]
(Homo sapiens)
KMT2D Q3964* [nucleoplasm]
(Homo sapiens)
KMT2D Q3968* [nucleoplasm]
(Homo sapiens)
KMT2D Q3988* [nucleoplasm]
(Homo sapiens)
KMT2D Q3990* [nucleoplasm]
(Homo sapiens)
KMT2D Q3991* [nucleoplasm]
(Homo sapiens)
KMT2D Q3993* [nucleoplasm]
(Homo sapiens)
KMT2D Q4007* [nucleoplasm]
(Homo sapiens)
KMT2D Q4090* [nucleoplasm]
(Homo sapiens)
KMT2D Q4101* [nucleoplasm]
(Homo sapiens)
KMT2D Q4102* [nucleoplasm]
(Homo sapiens)
KMT2D Q4157* [nucleoplasm]
(Homo sapiens)
KMT2D Q4200* [nucleoplasm]
(Homo sapiens)
KMT2D Q4221* [nucleoplasm]
(Homo sapiens)
KMT2D Q4223* [nucleoplasm]
(Homo sapiens)
KMT2D Q4230* [nucleoplasm]
(Homo sapiens)
KMT2D Q4233* [nucleoplasm]
(Homo sapiens)
KMT2D Q4239* [nucleoplasm]
(Homo sapiens)
KMT2D Q4249* [nucleoplasm]
(Homo sapiens)
KMT2D Q4270* [nucleoplasm]
(Homo sapiens)
KMT2D Q4315* [nucleoplasm]
(Homo sapiens)
KMT2D Q4322* [nucleoplasm]
(Homo sapiens)
KMT2D Q4329* [nucleoplasm]
(Homo sapiens)
KMT2D Q4401* [nucleoplasm]
(Homo sapiens)
KMT2D Q4405* [nucleoplasm]
(Homo sapiens)
KMT2D Q4503* [nucleoplasm]
(Homo sapiens)
KMT2D Q4554* [nucleoplasm]
(Homo sapiens)
KMT2D Q4687* [nucleoplasm]
(Homo sapiens)
KMT2D Q4859* [nucleoplasm]
(Homo sapiens)
KMT2D Q4905* [nucleoplasm]
(Homo sapiens)
KMT2D Q4997* [nucleoplasm]
(Homo sapiens)
KMT2D R1252* [nucleoplasm]
(Homo sapiens)
KMT2D R1324* [nucleoplasm]
(Homo sapiens)
KMT2D R1615* [nucleoplasm]
(Homo sapiens)
KMT2D R1702* [nucleoplasm]
(Homo sapiens)
KMT2D R1757* [nucleoplasm]
(Homo sapiens)
KMT2D R1903* [nucleoplasm]
(Homo sapiens)
KMT2D R2099* [nucleoplasm]
(Homo sapiens)
KMT2D R2410* [nucleoplasm]
(Homo sapiens)
KMT2D R2471* [nucleoplasm]
(Homo sapiens)
KMT2D R2645* [nucleoplasm]
(Homo sapiens)
KMT2D R2685* [nucleoplasm]
(Homo sapiens)
KMT2D R2687* [nucleoplasm]
(Homo sapiens)
KMT2D R2734* [nucleoplasm]
(Homo sapiens)
KMT2D R2771* [nucleoplasm]
(Homo sapiens)
KMT2D R2801* [nucleoplasm]
(Homo sapiens)
KMT2D R2830* [nucleoplasm]
(Homo sapiens)
KMT2D R2915* [nucleoplasm]
(Homo sapiens)
KMT2D R3982* [nucleoplasm]
(Homo sapiens)
KMT2D R4198* [nucleoplasm]
(Homo sapiens)
KMT2D R4282* [nucleoplasm]
(Homo sapiens)
KMT2D R4319* [nucleoplasm]
(Homo sapiens)
KMT2D R4484* [nucleoplasm]
(Homo sapiens)
KMT2D R4536* [nucleoplasm]
(Homo sapiens)
KMT2D R4904* [nucleoplasm]
(Homo sapiens)
KMT2D R4960* [nucleoplasm]
(Homo sapiens)
KMT2D R5021* [nucleoplasm]
(Homo sapiens)
KMT2D S1180* [nucleoplasm]
(Homo sapiens)
KMT2D S1263* [nucleoplasm]
(Homo sapiens)
KMT2D S146* [nucleoplasm]
(Homo sapiens)
KMT2D S1632* [nucleoplasm]
(Homo sapiens)
KMT2D S2251* [nucleoplasm]
(Homo sapiens)
KMT2D S2590* [nucleoplasm]
(Homo sapiens)
KMT2D S2839* [nucleoplasm]
(Homo sapiens)
KMT2D S2927* [nucleoplasm]
(Homo sapiens)
KMT2D S3614* [nucleoplasm]
(Homo sapiens)
KMT2D S3713* [nucleoplasm]
(Homo sapiens)
KMT2D S4010* [nucleoplasm]
(Homo sapiens)
KMT2D S4321* [nucleoplasm]
(Homo sapiens)
KMT2D S4414* [nucleoplasm]
(Homo sapiens)
KMT2D S4456* [nucleoplasm]
(Homo sapiens)
KMT2D S4669* [nucleoplasm]
(Homo sapiens)
KMT2D S4948* [nucleoplasm]
(Homo sapiens)
KMT2D S4958* [nucleoplasm]
(Homo sapiens)
KMT2D S510* [nucleoplasm]
(Homo sapiens)
KMT2D S849* [nucleoplasm]
(Homo sapiens)
KMT2D S940* [nucleoplasm]
(Homo sapiens)
KMT2D W141* [nucleoplasm]
(Homo sapiens)
KMT2D W2038* [nucleoplasm]
(Homo sapiens)
KMT2D W2818* [nucleoplasm]
(Homo sapiens)
KMT2D W315* [nucleoplasm]
(Homo sapiens)
KMT2D W3513* [nucleoplasm]
(Homo sapiens)
KMT2D W4730* [nucleoplasm]
(Homo sapiens)
KMT2D W4856* [nucleoplasm]
(Homo sapiens)
KMT2D W4982* [nucleoplasm]
(Homo sapiens)
KMT2D W4987* [nucleoplasm]
(Homo sapiens)
KMT2D W91* [nucleoplasm]
(Homo sapiens)
KMT2D Y1559* [nucleoplasm]
(Homo sapiens)
KMT2D Y1944* [nucleoplasm]
(Homo sapiens)
KMT2D Y2060* [nucleoplasm]
(Homo sapiens)
KMT2D Y4606* [nucleoplasm]
(Homo sapiens)
KMT2D Y4896* [nucleoplasm]
(Homo sapiens)
KMT2D A1109Gfs*2 [nucleoplasm]
(Homo sapiens)
KMT2D A1390Gfs*42 [nucleoplasm]
(Homo sapiens)
KMT2D A1390Qfs*27 [nucleoplasm]
(Homo sapiens)
KMT2D A1624Qfs*98 [nucleoplasm]
(Homo sapiens)
KMT2D A180Dfs*40 [nucleoplasm]
(Homo sapiens)
KMT2D A2058Pfs*36 [nucleoplasm]
(Homo sapiens)
KMT2D A2058Sfs*10 [nucleoplasm]
(Homo sapiens)
KMT2D A2101Tfs*55 [nucleoplasm]
(Homo sapiens)
KMT2D A2119Lfs*25 [nucleoplasm]
(Homo sapiens)
KMT2D A2119Rfs*36 [nucleoplasm]
(Homo sapiens)
KMT2D A2205Gfs*38 [nucleoplasm]
(Homo sapiens)
KMT2D A2205Nfs*38 [nucleoplasm]
(Homo sapiens)
KMT2D A2294Gfs*5 [nucleoplasm]
(Homo sapiens)
KMT2D A2335Gfs*42 [nucleoplasm]
(Homo sapiens)
KMT2D A2496Sfs*10 [nucleoplasm]
(Homo sapiens)
KMT2D A254Pfs*7 [nucleoplasm]
(Homo sapiens)
KMT2D A2826Tfs*29 [nucleoplasm]
(Homo sapiens)
KMT2D A2855Gfs*55 [nucleoplasm]
(Homo sapiens)
KMT2D A28Cfs*3 [nucleoplasm]
(Homo sapiens)
KMT2D A3103Lfs*16 [nucleoplasm]
(Homo sapiens)
KMT2D A3552Cfs*4 [nucleoplasm]
(Homo sapiens)
KMT2D A3552Sfs*4 [nucleoplasm]
(Homo sapiens)
KMT2D A3593Qfs*65 [nucleoplasm]
(Homo sapiens)
KMT2D A3808Lfs*22 [nucleoplasm]
(Homo sapiens)
KMT2D A4014Sfs*23 [nucleoplasm]
(Homo sapiens)
KMT2D A422Qfs*13 [nucleoplasm]
(Homo sapiens)
KMT2D A4594Pfs*23 [nucleoplasm]
(Homo sapiens)
KMT2D A4599Hfs*4 [nucleoplasm]
(Homo sapiens)
KMT2D A4824Pfs*34 [nucleoplasm]
(Homo sapiens)
KMT2D A4835Sfs*2 [nucleoplasm]
(Homo sapiens)
KMT2D A4908Pfs*87 [nucleoplasm]
(Homo sapiens)
KMT2D C1408Vfs*9 [nucleoplasm]
(Homo sapiens)
KMT2D C1489Vfs*17 [nucleoplasm]
(Homo sapiens)
KMT2D C158Wfs*60 [nucleoplasm]
(Homo sapiens)
KMT2D C175Wfs*41 [nucleoplasm]
(Homo sapiens)
KMT2D C197Afs*11 [nucleoplasm]
(Homo sapiens)
KMT2D C2395Tfs*29 [nucleoplasm]
(Homo sapiens)
KMT2D C279Wfs*7 [nucleoplasm]
(Homo sapiens)
KMT2D C346Sfs*17 [nucleoplasm]
(Homo sapiens)
KMT2D C69Lfs*61 [nucleoplasm]
(Homo sapiens)
KMT2D D1121Tfs*43 [nucleoplasm]
(Homo sapiens)
KMT2D D1842Efs*10 [nucleoplasm]
(Homo sapiens)
KMT2D D1876Gfs*38 [nucleoplasm]
(Homo sapiens)
KMT2D D2647Tfs*44 [nucleoplasm]
(Homo sapiens)
KMT2D D3005Gfs*2 [nucleoplasm]
(Homo sapiens)
KMT2D D383Tfs*19 [nucleoplasm]
(Homo sapiens)
KMT2D D5005Mfs*46 [nucleoplasm]
(Homo sapiens)
KMT2D D57Tfs*73 [nucleoplasm]
(Homo sapiens)
KMT2D D704Sfs*26 [nucleoplasm]
(Homo sapiens)
KMT2D E1287Gfs*38 [nucleoplasm]
(Homo sapiens)
KMT2D E1571Sfs*5 [nucleoplasm]
(Homo sapiens)
KMT2D E1661Gfs*5 [nucleoplasm]
(Homo sapiens)
KMT2D E1661Sfs*61 [nucleoplasm]
(Homo sapiens)
KMT2D E2081Dfs*22 [nucleoplasm]
(Homo sapiens)
KMT2D E2081Gfs*16 [nucleoplasm]
(Homo sapiens)
KMT2D E2225Gfs*18 [nucleoplasm]
(Homo sapiens)
KMT2D E2339Gfs*36 [nucleoplasm]
(Homo sapiens)
KMT2D E237Sfs*24 [nucleoplasm]
(Homo sapiens)
KMT2D E2476Kfs*9 [nucleoplasm]
(Homo sapiens)
KMT2D E2676Afs*47 [nucleoplasm]
(Homo sapiens)
KMT2D E2844Afs*4 [nucleoplasm]
(Homo sapiens)
KMT2D E3004Rfs*3 [nucleoplasm]
(Homo sapiens)
KMT2D E3181Rfs*16 [nucleoplasm]
(Homo sapiens)
KMT2D E4056Sfs*10 [nucleoplasm]
(Homo sapiens)
KMT2D E4061Dfs*5 [nucleoplasm]
(Homo sapiens)
KMT2D E4245Dfs*84 [nucleoplasm]
(Homo sapiens)
KMT2D E446Sfs*484 [nucleoplasm]
(Homo sapiens)
KMT2D E455Nfs*475 [nucleoplasm]
(Homo sapiens)
KMT2D E4717Gfs*64 [nucleoplasm]
(Homo sapiens)
KMT2D E490Nfs*439 [nucleoplasm]
(Homo sapiens)
KMT2D E4957Nfs*38 [nucleoplasm]
(Homo sapiens)
KMT2D E524Kfs*406 [nucleoplasm]
(Homo sapiens)
KMT2D E722Sfs*208 [nucleoplasm]
(Homo sapiens)
KMT2D E958Rfs*11 [nucleoplasm]
(Homo sapiens)
KMT2D F2142Gfs*7 [nucleoplasm]
(Homo sapiens)
KMT2D F2494Vfs*12 [nucleoplasm]
(Homo sapiens)
KMT2D F3699Lfs*14 [nucleoplasm]
(Homo sapiens)
KMT2D G1235Vfs*95 [nucleoplasm]
(Homo sapiens)
KMT2D G1467Afs*39 [nucleoplasm]
(Homo sapiens)
KMT2D G1811Rfs*15 [nucleoplasm]
(Homo sapiens)
KMT2D G202Afs*7 [nucleoplasm]
(Homo sapiens)
KMT2D G2114Afs*30 [nucleoplasm]
(Homo sapiens)
KMT2D G2224Ifs*17 [nucleoplasm]
(Homo sapiens)
KMT2D G2262Wfs*37 [nucleoplasm]
(Homo sapiens)
KMT2D G2525Dfs*131 [nucleoplasm]
(Homo sapiens)
KMT2D G2668Vfs*4 [nucleoplasm]
(Homo sapiens)
KMT2D G3316Vfs*14 [nucleoplasm]
(Homo sapiens)
KMT2D G3366Wfs*25 [nucleoplasm]
(Homo sapiens)
KMT2D G3465Dfs*37 [nucleoplasm]
(Homo sapiens)
KMT2D G3819Afs*11 [nucleoplasm]
(Homo sapiens)
KMT2D G3819Lfs*7 [nucleoplasm]
(Homo sapiens)
KMT2D G3844Vfs*37 [nucleoplasm]
(Homo sapiens)
KMT2D G398Vfs*4 [nucleoplasm]
(Homo sapiens)
KMT2D G4023Sfs*18 [nucleoplasm]
(Homo sapiens)
KMT2D G4112Vfs*8 [nucleoplasm]
(Homo sapiens)
KMT2D G4299Dfs*85 [nucleoplasm]
(Homo sapiens)
KMT2D G4459Tfs*20 [nucleoplasm]
(Homo sapiens)
KMT2D G921Afs*40 [nucleoplasm]
(Homo sapiens)
KMT2D H3824Qfs*187 [nucleoplasm]
(Homo sapiens)
KMT2D H4132Pfs*10 [nucleoplasm]
(Homo sapiens)
KMT2D H4132Pfs*36 [nucleoplasm]
(Homo sapiens)
KMT2D H4460Ifs*59 [nucleoplasm]
(Homo sapiens)
KMT2D H4460Pfs*60 [nucleoplasm]
(Homo sapiens)
KMT2D H4685Qfs*4 [nucleoplasm]
(Homo sapiens)
KMT2D I1509Vfs*6 [nucleoplasm]
(Homo sapiens)
KMT2D I182Hfs*38 [nucleoplasm]
(Homo sapiens)
KMT2D I182Lfs*25 [nucleoplasm]
(Homo sapiens)
KMT2D I3420Nfs*3 [nucleoplasm]
(Homo sapiens)
KMT2D I4440Mfs*79 [nucleoplasm]
(Homo sapiens)
KMT2D I4705Ffs*4 [nucleoplasm]
(Homo sapiens)
KMT2D K1301Nfs*29 [nucleoplasm]
(Homo sapiens)
KMT2D K1466Qfs*25 [nucleoplasm]
(Homo sapiens)
KMT2D K1665Nfs*57 [nucleoplasm]
(Homo sapiens)
KMT2D K1712Rfs*22 [nucleoplasm]
(Homo sapiens)
KMT2D K1760Afs*26 [nucleoplasm]
(Homo sapiens)
KMT2D K2089Rfs*5 [nucleoplasm]
(Homo sapiens)
KMT2D K2548Nfs*35 [nucleoplasm]
(Homo sapiens)
KMT2D K2953Nfs*51 [nucleoplasm]
(Homo sapiens)
KMT2D K2985Sfs*19 [nucleoplasm]
(Homo sapiens)
KMT2D K3140Rfs*2 [nucleoplasm]
(Homo sapiens)
KMT2D K3235Dfs*15 [nucleoplasm]
(Homo sapiens)
KMT2D K3258Rfs*72 [nucleoplasm]
(Homo sapiens)
KMT2D K3565Sfs*93 [nucleoplasm]
(Homo sapiens)
KMT2D K417Nfs*3 [nucleoplasm]
(Homo sapiens)
KMT2D K4432Rfs*9 [nucleoplasm]
(Homo sapiens)
KMT2D K4613Ifs*6 [nucleoplasm]
(Homo sapiens)
KMT2D L1264Afs*4 [nucleoplasm]
(Homo sapiens)
KMT2D L1366Sfs*9 [nucleoplasm]
(Homo sapiens)
KMT2D L1461Tfs*30 [nucleoplasm]
(Homo sapiens)
KMT2D L2104Pfs*40 [nucleoplasm]
(Homo sapiens)
KMT2D L2319Pfs*7 [nucleoplasm]
(Homo sapiens)
KMT2D L2331Pfs*46 [nucleoplasm]
(Homo sapiens)
KMT2D L2331Rfs*8 [nucleoplasm]
(Homo sapiens)
KMT2D L238Cfs*23 [nucleoplasm]
(Homo sapiens)
KMT2D L256Rfs*5 [nucleoplasm]
(Homo sapiens)
KMT2D L3432Ffs*36 [nucleoplasm]
(Homo sapiens)
KMT2D L345Vfs*56 [nucleoplasm]
(Homo sapiens)
KMT2D L3542Vfs*13 [nucleoplasm]
(Homo sapiens)
KMT2D L3564Afs*27 [nucleoplasm]
(Homo sapiens)
KMT2D L3564Efs*28 [nucleoplasm]
(Homo sapiens)
KMT2D L3641Afs*34 [nucleoplasm]
(Homo sapiens)
KMT2D L3657Qfs*89 [nucleoplasm]
(Homo sapiens)
KMT2D L3880Dfs*131 [nucleoplasm]
(Homo sapiens)
KMT2D L4253Pfs*81 [nucleoplasm]
(Homo sapiens)
KMT2D L4302Pfs*32 [nucleoplasm]
(Homo sapiens)
KMT2D L434Pfs*12 [nucleoplasm]
(Homo sapiens)
KMT2D L434Qfs*496 [nucleoplasm]
(Homo sapiens)
KMT2D L4449Pfs*70 [nucleoplasm]
(Homo sapiens)
KMT2D L449Vfs*5 [nucleoplasm]
(Homo sapiens)
KMT2D L4539Rfs*14 [nucleoplasm]
(Homo sapiens)
KMT2D L4551Cfs*2 [nucleoplasm]
(Homo sapiens)
KMT2D L4674Rfs*120 [nucleoplasm]
(Homo sapiens)
KMT2D L4901Wfs*94 [nucleoplasm]
(Homo sapiens)
KMT2D L4941Ffs*3 [nucleoplasm]
(Homo sapiens)
KMT2D L4992Rfs*3 [nucleoplasm]
(Homo sapiens)
KMT2D L4993Cfs*2 [nucleoplasm]
(Homo sapiens)
KMT2D L5020Tfs*2 [nucleoplasm]
(Homo sapiens)
KMT2D L545Rfs*385 [nucleoplasm]
(Homo sapiens)
KMT2D L656Rfs*274 [nucleoplasm]
(Homo sapiens)
KMT2D L725Vfs*5 [nucleoplasm]
(Homo sapiens)
KMT2D L860Rfs*70 [nucleoplasm]
(Homo sapiens)
KMT2D L860Vfs*5 [nucleoplasm]
(Homo sapiens)
KMT2D M1098Wfs*21 [nucleoplasm]
(Homo sapiens)
KMT2D M1379Vfs*52 [nucleoplasm]
(Homo sapiens)
KMT2D M1605Hfs*26 [nucleoplasm]
(Homo sapiens)
KMT2D M2211Nfs*32 [nucleoplasm]
(Homo sapiens)
KMT2D M2669Pfs*7 [nucleoplasm]
(Homo sapiens)
KMT2D M2784Gfs*60 [nucleoplasm]
(Homo sapiens)
KMT2D M3295Lfs*39 [nucleoplasm]
(Homo sapiens)
KMT2D M3894Wfs*85 [nucleoplasm]
(Homo sapiens)
KMT2D M4148Sfs*15 [nucleoplasm]
(Homo sapiens)
KMT2D N4403Wfs*6 [nucleoplasm]
(Homo sapiens)
KMT2D P1181Hfs*31 [nucleoplasm]
(Homo sapiens)
KMT2D P1196Tfs*11 [nucleoplasm]
(Homo sapiens)
KMT2D P1197Tfs*10 [nucleoplasm]
(Homo sapiens)
KMT2D P1232Rfs*98 [nucleoplasm]
(Homo sapiens)
KMT2D P1460Hfs*46 [nucleoplasm]
(Homo sapiens)
KMT2D P1485Lfs*21 [nucleoplasm]
(Homo sapiens)
KMT2D P1580Qfs*13 [nucleoplasm]
(Homo sapiens)
KMT2D P1607Tfs*24 [nucleoplasm]
(Homo sapiens)
KMT2D P1736Lfs*13 [nucleoplasm]
(Homo sapiens)
KMT2D P1844Rfs*3 [nucleoplasm]
(Homo sapiens)
KMT2D P1866Qfs*10 [nucleoplasm]
(Homo sapiens)
KMT2D P1951Rfs*96 [nucleoplasm]
(Homo sapiens)
KMT2D P2029Lfs*18 [nucleoplasm]
(Homo sapiens)
KMT2D P235Afs*6 [nucleoplasm]
(Homo sapiens)
KMT2D P235Qfs*26 [nucleoplasm]
(Homo sapiens)
KMT2D P2400Lfs*26 [nucleoplasm]
(Homo sapiens)
KMT2D P2470Sfs*7 [nucleoplasm]
(Homo sapiens)
KMT2D P2502Qfs*41 [nucleoplasm]
(Homo sapiens)
KMT2D P2575Lfs*8 [nucleoplasm]
(Homo sapiens)
KMT2D P2662Qfs*29 [nucleoplasm]
(Homo sapiens)
KMT2D P2724Qfs*5 [nucleoplasm]
(Homo sapiens)
KMT2D P2738Dfs*32 [nucleoplasm]
(Homo sapiens)
KMT2D P3246Tfs*5 [nucleoplasm]
(Homo sapiens)
KMT2D P3466Tfs*2 [nucleoplasm]
(Homo sapiens)
KMT2D P4098Qfs*22 [nucleoplasm]
(Homo sapiens)
KMT2D P411Tfs*7 [nucleoplasm]
(Homo sapiens)
KMT2D P4246Lfs*32 [nucleoplasm]
(Homo sapiens)
KMT2D P4293Qfs*86 [nucleoplasm]
(Homo sapiens)
KMT2D P444Rfs*485 [nucleoplasm]
(Homo sapiens)
KMT2D P4454Lfs*65 [nucleoplasm]
(Homo sapiens)
KMT2D P4630Hfs*10 [nucleoplasm]
(Homo sapiens)
KMT2D P4739Rfs*42 [nucleoplasm]
(Homo sapiens)
KMT2D P4750Qfs*47 [nucleoplasm]
(Homo sapiens)
KMT2D P4909Hfs*86 [nucleoplasm]
(Homo sapiens)
KMT2D P4918Lfs*77 [nucleoplasm]
(Homo sapiens)
KMT2D P4945Nfs*13 [nucleoplasm]
(Homo sapiens)
KMT2D P4976Sfs*31 [nucleoplasm]
(Homo sapiens)
KMT2D P544Hfs*383 [nucleoplasm]
(Homo sapiens)
KMT2D P548Hfs*382 [nucleoplasm]
(Homo sapiens)
KMT2D P583Lfs*347 [nucleoplasm]
(Homo sapiens)
KMT2D P647Hfs*283 [nucleoplasm]
(Homo sapiens)
KMT2D P670Sfs*7 [nucleoplasm]
(Homo sapiens)
KMT2D P763Rfs*167 [nucleoplasm]
(Homo sapiens)
KMT2D P886Lfs*44 [nucleoplasm]
(Homo sapiens)
KMT2D P986Tfs*4 [nucleoplasm]
(Homo sapiens)
KMT2D P99Lfs*31 [nucleoplasm]
(Homo sapiens)
KMT2D Q1302Tfs*23 [nucleoplasm]
(Homo sapiens)
KMT2D Q2109Afs*46 [nucleoplasm]
(Homo sapiens)
KMT2D Q2170Kfs*94 [nucleoplasm]
(Homo sapiens)
KMT2D Q2237Tfs*28 [nucleoplasm]
(Homo sapiens)
KMT2D Q2540Sfs*115 [nucleoplasm]
(Homo sapiens)
KMT2D Q2811Tfs*34 [nucleoplasm]
(Homo sapiens)
KMT2D Q2815Pfs*30 [nucleoplasm]
(Homo sapiens)
KMT2D Q2816Tfs*29 [nucleoplasm]
(Homo sapiens)
KMT2D Q2876Sfs*34 [nucleoplasm]
(Homo sapiens)
KMT2D Q3265Sfs*67 [nucleoplasm]
(Homo sapiens)
KMT2D Q3276Afs*25 [nucleoplasm]
(Homo sapiens)
KMT2D Q3370Rfs*22 [nucleoplasm]
(Homo sapiens)
KMT2D Q3499Rfs*5 [nucleoplasm]
(Homo sapiens)
KMT2D Q3546Hfs*112 [nucleoplasm]
(Homo sapiens)
KMT2D Q3570Sfs*89 [nucleoplasm]
(Homo sapiens)
KMT2D Q3726Nfs*23 [nucleoplasm]
(Homo sapiens)
KMT2D Q3796Rfs*34 [nucleoplasm]
(Homo sapiens)
KMT2D Q3826Cfs*3 [nucleoplasm]
(Homo sapiens)
KMT2D Q3839Pfs*173 [nucleoplasm]
(Homo sapiens)
KMT2D Q3865Pfs*144 [nucleoplasm]
(Homo sapiens)
KMT2D Q3867Afs*145 [nucleoplasm]
(Homo sapiens)
KMT2D Q3913Hfs*66 [nucleoplasm]
(Homo sapiens)
KMT2D Q3923Hfs*56 [nucleoplasm]
(Homo sapiens)
KMT2D Q3924Pfs*88 [nucleoplasm]
(Homo sapiens)
KMT2D Q3943Hfs*36 [nucleoplasm]
(Homo sapiens)
KMT2D Q4156Nfs*5 [nucleoplasm]
(Homo sapiens)
KMT2D Q4183Afs*151 [nucleoplasm]
(Homo sapiens)
KMT2D Q4202Rfs*15 [nucleoplasm]
(Homo sapiens)
KMT2D Q4235Gfs*98 [nucleoplasm]
(Homo sapiens)
KMT2D Q4335Pfs*48 [nucleoplasm]
(Homo sapiens)
KMT2D Q4364Rfs*20 [nucleoplasm]
(Homo sapiens)
KMT2D Q4429Sfs*3 [nucleoplasm]
(Homo sapiens)
KMT2D Q773Pfs*3 [nucleoplasm]
(Homo sapiens)
KMT2D Q809Pfs*3 [nucleoplasm]
(Homo sapiens)
KMT2D Q836Pfs*3 [nucleoplasm]
(Homo sapiens)
KMT2D R1322Lfs*8 [nucleoplasm]
(Homo sapiens)
KMT2D R1687Tfs*4 [nucleoplasm]
(Homo sapiens)
KMT2D R1709Hfs*25 [nucleoplasm]
(Homo sapiens)
KMT2D R2050Ifs*5 [nucleoplasm]
(Homo sapiens)
KMT2D R2282Gfs*4 [nucleoplasm]
(Homo sapiens)
KMT2D R2428Gfs*57 [nucleoplasm]
(Homo sapiens)
KMT2D R2460Vfs*25 [nucleoplasm]
(Homo sapiens)
KMT2D R2771Dfs*16 [nucleoplasm]
(Homo sapiens)
KMT2D R3110Sfs*4 [nucleoplasm]
(Homo sapiens)
KMT2D R4288Lfs*94 [nucleoplasm]
(Homo sapiens)
KMT2D R4319Tfs*14 [nucleoplasm]
(Homo sapiens)
KMT2D R4433Kfs*54 [nucleoplasm]
(Homo sapiens)
KMT2D R4515Kfs*60 [nucleoplasm]
(Homo sapiens)
KMT2D R4666Gfs*23 [nucleoplasm]
(Homo sapiens)
KMT2D R466Tfs*7 [nucleoplasm]
(Homo sapiens)
KMT2D R4975Vfs*20 [nucleoplasm]
(Homo sapiens)
KMT2D R4991Lfs*16 [nucleoplasm]
(Homo sapiens)
KMT2D R755Pfs*3 [nucleoplasm]
(Homo sapiens)
KMT2D R845Gfs*85 [nucleoplasm]
(Homo sapiens)
KMT2D S1007Pfs*60 [nucleoplasm]
(Homo sapiens)
KMT2D S102Afs*28 [nucleoplasm]
(Homo sapiens)
KMT2D S102Afs*28 [nucleoplasm]
(Homo sapiens)
KMT2D S102Efs*6 [nucleoplasm]
(Homo sapiens)
KMT2D S1037Pfs*30 [nucleoplasm]
(Homo sapiens)
KMT2D S1107Afs*12 [nucleoplasm]
(Homo sapiens)
KMT2D S1217Kfs*33 [nucleoplasm]
(Homo sapiens)
KMT2D S1722Rfs*9 [nucleoplasm]
(Homo sapiens)
KMT2D S2269Pfs*15 [nucleoplasm]
(Homo sapiens)
KMT2D S2409Lfs*25 [nucleoplasm]
(Homo sapiens)
KMT2D S2431Lfs*53 [nucleoplasm]
(Homo sapiens)
KMT2D S2765Pfs*22 [nucleoplasm]
(Homo sapiens)
KMT2D S2969Vfs*4 [nucleoplasm]
(Homo sapiens)
KMT2D S3075Ffs*3 [nucleoplasm]
(Homo sapiens)
KMT2D S3199Afs*3 [nucleoplasm]
(Homo sapiens)
KMT2D S3202Efs*13 [nucleoplasm]
(Homo sapiens)
KMT2D S3239Yfs*3 [nucleoplasm]
(Homo sapiens)
KMT2D S370Tfs*43 [nucleoplasm]
(Homo sapiens)
KMT2D S4124Hfs*14 [nucleoplasm]
(Homo sapiens)
KMT2D S4393Kfs*17 [nucleoplasm]
(Homo sapiens)
KMT2D S4393Pfs*16 [nucleoplasm]
(Homo sapiens)
KMT2D S4507Afs*12 [nucleoplasm]
(Homo sapiens)
KMT2D S4633Ifs*14 [nucleoplasm]
(Homo sapiens)
KMT2D S4907Lfs*84 [nucleoplasm]
(Homo sapiens)
KMT2D S588Tfs*16 [nucleoplasm]
(Homo sapiens)
KMT2D S609Pfs*321 [nucleoplasm]
(Homo sapiens)
KMT2D T1198Lfs*14 [nucleoplasm]
(Homo sapiens)
KMT2D T199Vfs*6 [nucleoplasm]
(Homo sapiens)
KMT2D T2191Hfs*11 [nucleoplasm]
(Homo sapiens)
KMT2D T2323Dfs*3 [nucleoplasm]
(Homo sapiens)
KMT2D T2524Rfs*19 [nucleoplasm]
(Homo sapiens)
KMT2D T2827Ifs*14 [nucleoplasm]
(Homo sapiens)
KMT2D T2827Sfs*19 [nucleoplasm]
(Homo sapiens)
KMT2D T2949Nfs*24 [nucleoplasm]
(Homo sapiens)
KMT2D T382Lfs*20 [nucleoplasm]
(Homo sapiens)
KMT2D T4271Afs*6 [nucleoplasm]
(Homo sapiens)
KMT2D T4339Pfs*45 [nucleoplasm]
(Homo sapiens)
KMT2D T4343Rfs*42 [nucleoplasm]
(Homo sapiens)
KMT2D T4629Hfs*18 [nucleoplasm]
(Homo sapiens)
KMT2D T4629Pfs*11 [nucleoplasm]
(Homo sapiens)
KMT2D T4787Sfs*29 [nucleoplasm]
(Homo sapiens)
KMT2D T4890Sfs*104 [nucleoplasm]
(Homo sapiens)
KMT2D T5018Hfs*6 [nucleoplasm]
(Homo sapiens)
KMT2D T698Hfs*6 [nucleoplasm]
(Homo sapiens)
KMT2D V1064Sfs*55 [nucleoplasm]
(Homo sapiens)
KMT2D V1078Sfs*5 [nucleoplasm]
(Homo sapiens)
KMT2D V1381Gfs*50 [nucleoplasm]
(Homo sapiens)
KMT2D V1564Wfs*12 [nucleoplasm]
(Homo sapiens)
KMT2D V1851Rfs*9 [nucleoplasm]
(Homo sapiens)
KMT2D V2551Sfs*32 [nucleoplasm]
(Homo sapiens)
KMT2D V3073Efs*46 [nucleoplasm]
(Homo sapiens)
KMT2D V3089Gfs*9 [nucleoplasm]
(Homo sapiens)
KMT2D V3787Gfs*225 [nucleoplasm]
(Homo sapiens)
KMT2D V3809Cfs*21 [nucleoplasm]
(Homo sapiens)
KMT2D V4139Cfs*29 [nucleoplasm]
(Homo sapiens)
KMT2D V4139Ffs*28 [nucleoplasm]
(Homo sapiens)
KMT2D V4691Gfs*6 [nucleoplasm]
(Homo sapiens)
KMT2D W1591Afs*11 [nucleoplasm]
(Homo sapiens)
KMT2D W4982Gfs*13 [nucleoplasm]
(Homo sapiens)
KMT2D Y2060Tfs*34 [nucleoplasm]
(Homo sapiens)
KMT2D Y2199Ffs*65 [nucleoplasm]
(Homo sapiens)
KMT2D Y2199Ifs*65 [nucleoplasm]
(Homo sapiens)
KMT2D Y2199Lfs*3 [nucleoplasm]
(Homo sapiens)
KMT2D Y251Lfs*22 [nucleoplasm]
(Homo sapiens)
KMT2D Y4758Lfs*24 [nucleoplasm]
(Homo sapiens)
KMT2D Q56* [nucleoplasm]
(Homo sapiens)
Participates
as an input of
KMT2D LOF Variants Do Not Bind WRAD Complex Components (Homo sapiens)
Disease
Name
Identifier
Synonyms
Kabuki syndrome
DOID:0060473
KMS, Niikawa-Kuroki syndrome, Kabuki make up syndrome
Cross References
Mondo
0016512
© 2026
Reactome
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