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ATRX truncation mutants (DAXX binding region) [nucleoplasm]
Stable Identifier
R-HSA-9670618
Type
Set [CandidateSet]
Species
Homo sapiens
Compartment
nucleoplasm
Locations in the PathwayBrowser
Expand all
Disease (Homo sapiens)
Diseases of mitotic cell cycle (Homo sapiens)
Diseases of Telomere Maintenance (Homo sapiens)
Alternative Lengthening of Telomeres (ALT) (Homo sapiens)
Defective Inhibition of DNA Recombination at Telomere (Homo sapiens)
Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations (Homo sapiens)
Defective ATRX does not bind DAXX (Homo sapiens)
ATRX truncation mutants (DAXX binding region) [nucleoplasm] (Homo sapiens)
Participants
members
ATRX E63* [nucleoplasm]
(Homo sapiens)
ATRX S79* [nucleoplasm]
(Homo sapiens)
ATRX R160Pfs*29 [nucleoplasm]
(Homo sapiens)
ATRX G161* [nucleoplasm]
(Homo sapiens)
ATRX H166Mfs*4 [nucleoplasm]
(Homo sapiens)
ATRX Q176* [nucleoplasm]
(Homo sapiens)
ATRX Q176Hfs*13 [nucleoplasm]
(Homo sapiens)
ATRX Q177* [nucleoplasm]
(Homo sapiens)
ATRX D184Ifs*22 [nucleoplasm]
(Homo sapiens)
ATRX Y187* [nucleoplasm]
(Homo sapiens)
ATRX R188* [nucleoplasm]
(Homo sapiens)
ATRX P190Hfs*15 [nucleoplasm]
(Homo sapiens)
ATRX Q193* [nucleoplasm]
(Homo sapiens)
ATRX Y204* [nucleoplasm]
(Homo sapiens)
ATRX M205* [nucleoplasm]
(Homo sapiens)
ATRX S213* [nucleoplasm]
(Homo sapiens)
ATRX W222* [nucleoplasm]
(Homo sapiens)
ATRX R250* [nucleoplasm]
(Homo sapiens)
ATRX L253* [nucleoplasm]
(Homo sapiens)
ATRX W263* [nucleoplasm]
(Homo sapiens)
ATRX Y266* [nucleoplasm]
(Homo sapiens)
ATRX C268Qfs*18 [nucleoplasm]
(Homo sapiens)
ATRX L273Ffs*9 [nucleoplasm]
(Homo sapiens)
ATRX L274Ffs*8 [nucleoplasm]
(Homo sapiens)
ATRX E288* [nucleoplasm]
(Homo sapiens)
ATRX Q292* [nucleoplasm]
(Homo sapiens)
ATRX K319* [nucleoplasm]
(Homo sapiens)
ATRX K329Ifs*3 [nucleoplasm]
(Homo sapiens)
ATRX K330Nfs*2 [nucleoplasm]
(Homo sapiens)
candidates
ATRX Y341* [nucleoplasm]
(Homo sapiens)
ATRX S342* [nucleoplasm]
(Homo sapiens)
ATRX K358Nfs*2 [nucleoplasm]
(Homo sapiens)
ATRX L359Hfs*3 [nucleoplasm]
(Homo sapiens)
ATRX L359Tfs*3 [nucleoplasm]
(Homo sapiens)
ATRX I360Rfs*6 [nucleoplasm]
(Homo sapiens)
ATRX I383Nfs*11 [nucleoplasm]
(Homo sapiens)
ATRX T387Qfs*27 [nucleoplasm]
(Homo sapiens)
ATRX Q391* [nucleoplasm]
(Homo sapiens)
ATRX K425Rfs*8 [nucleoplasm]
(Homo sapiens)
ATRX N428Yfs*5 [nucleoplasm]
(Homo sapiens)
ATRX E431* [nucleoplasm]
(Homo sapiens)
ATRX L452Ffs*12 [nucleoplasm]
(Homo sapiens)
ATRX K455* [nucleoplasm]
(Homo sapiens)
ATRX K459* [nucleoplasm]
(Homo sapiens)
ATRX S471Vfs*43 [nucleoplasm]
(Homo sapiens)
ATRX V478Ffs*36 [nucleoplasm]
(Homo sapiens)
ATRX E482* [nucleoplasm]
(Homo sapiens)
ATRX L513* [nucleoplasm]
(Homo sapiens)
ATRX E533* [nucleoplasm]
(Homo sapiens)
ATRX T534Wfs*3 [nucleoplasm]
(Homo sapiens)
ATRX Q545* [nucleoplasm]
(Homo sapiens)
ATRX G551* [nucleoplasm]
(Homo sapiens)
ATRX Q554Rfs*21 [nucleoplasm]
(Homo sapiens)
ATRX S558Ifs*4 [nucleoplasm]
(Homo sapiens)
ATRX K562* [nucleoplasm]
(Homo sapiens)
ATRX S567* [nucleoplasm]
(Homo sapiens)
ATRX E585* [nucleoplasm]
(Homo sapiens)
ATRX E625* [nucleoplasm]
(Homo sapiens)
ATRX L639Wfs*10 [nucleoplasm]
(Homo sapiens)
ATRX E643* [nucleoplasm]
(Homo sapiens)
ATRX P663Yfs*10 [nucleoplasm]
(Homo sapiens)
ATRX L664* [nucleoplasm]
(Homo sapiens)
ATRX R666* [nucleoplasm]
(Homo sapiens)
ATRX N676Kfs*17 [nucleoplasm]
(Homo sapiens)
ATRX E680* [nucleoplasm]
(Homo sapiens)
ATRX T684Sfs*2 [nucleoplasm]
(Homo sapiens)
ATRX E723Dfs*9 [nucleoplasm]
(Homo sapiens)
ATRX V725Gfs*7 [nucleoplasm]
(Homo sapiens)
ATRX Q727* [nucleoplasm]
(Homo sapiens)
ATRX S729* [nucleoplasm]
(Homo sapiens)
ATRX I737Kfs*3 [nucleoplasm]
(Homo sapiens)
ATRX L738Gfs*13 [nucleoplasm]
(Homo sapiens)
ATRX S747Ffs*6 [nucleoplasm]
(Homo sapiens)
ATRX S747Rfs*6 [nucleoplasm]
(Homo sapiens)
ATRX S750* [nucleoplasm]
(Homo sapiens)
ATRX D774Mfs*29 [nucleoplasm]
(Homo sapiens)
ATRX K778Nfs*23 [nucleoplasm]
(Homo sapiens)
ATRX R781* [nucleoplasm]
(Homo sapiens)
ATRX K782* [nucleoplasm]
(Homo sapiens)
ATRX S784Lfs*13 [nucleoplasm]
(Homo sapiens)
ATRX S788* [nucleoplasm]
(Homo sapiens)
ATRX D791* [nucleoplasm]
(Homo sapiens)
ATRX S797* [nucleoplasm]
(Homo sapiens)
ATRX T792Ifs*12 [nucleoplasm]
(Homo sapiens)
ATRX R808* [nucleoplasm]
(Homo sapiens)
ATRX K823* [nucleoplasm]
(Homo sapiens)
ATRX K823Rfs*7 [nucleoplasm]
(Homo sapiens)
ATRX K826* [nucleoplasm]
(Homo sapiens)
ATRX A834Pfs*35 [nucleoplasm]
(Homo sapiens)
ATRX R840Efs*29 [nucleoplasm]
(Homo sapiens)
ATRX R840Kfs*9 [nucleoplasm]
(Homo sapiens)
ATRX T844Yfs*5 [nucleoplasm]
(Homo sapiens)
ATRX G859Efs*10 [nucleoplasm]
(Homo sapiens)
ATRX G859Rfs*4 [nucleoplasm]
(Homo sapiens)
ATRX S871Hfs*34 [nucleoplasm]
(Homo sapiens)
ATRX S876Lfs*29 [nucleoplasm]
(Homo sapiens)
ATRX Q883Rfs*13 [nucleoplasm]
(Homo sapiens)
ATRX R885Sfs*21 [nucleoplasm]
(Homo sapiens)
ATRX E886Dfs*10 [nucleoplasm]
(Homo sapiens)
ATRX E886Lfs*18 [nucleoplasm]
(Homo sapiens)
ATRX F888Sfs*17 [nucleoplasm]
(Homo sapiens)
ATRX K910* [nucleoplasm]
(Homo sapiens)
ATRX K945Rfs*25 [nucleoplasm]
(Homo sapiens)
ATRX V957Sfs*7 [nucleoplasm]
(Homo sapiens)
ATRX K967* [nucleoplasm]
(Homo sapiens)
ATRX K971Tfs*31 [nucleoplasm]
(Homo sapiens)
ATRX E976Dfs*2 [nucleoplasm]
(Homo sapiens)
ATRX K983* [nucleoplasm]
(Homo sapiens)
ATRX Q984* [nucleoplasm]
(Homo sapiens)
ATRX E991Gfs*9 [nucleoplasm]
(Homo sapiens)
ATRX K993Rfs*10 [nucleoplasm]
(Homo sapiens)
ATRX K994Efs*6 [nucleoplasm]
(Homo sapiens)
ATRX P995Tfs*5 [nucleoplasm]
(Homo sapiens)
ATRX K1001Nfs*3 [nucleoplasm]
(Homo sapiens)
ATRX V1002* [nucleoplasm]
(Homo sapiens)
ATRX E1010Mfs*24 [nucleoplasm]
(Homo sapiens)
ATRX E1017Dfs*5 [nucleoplasm]
(Homo sapiens)
ATRX K1018Rfs*5 [nucleoplasm]
(Homo sapiens)
ATRX K1045* [nucleoplasm]
(Homo sapiens)
ATRX I1049* [nucleoplasm]
(Homo sapiens)
ATRX I1049Kfs*69 [nucleoplasm]
(Homo sapiens)
ATRX I1049Mfs*3 [nucleoplasm]
(Homo sapiens)
ATRX I1049Nfs*4 [nucleoplasm]
(Homo sapiens)
ATRX K1052* [nucleoplasm]
(Homo sapiens)
ATRX K1057Rfs*61 [nucleoplasm]
(Homo sapiens)
ATRX E1065* [nucleoplasm]
(Homo sapiens)
ATRX G1071* [nucleoplasm]
(Homo sapiens)
ATRX K1081Rfs*37 [nucleoplasm]
(Homo sapiens)
ATRX S1101* [nucleoplasm]
(Homo sapiens)
ATRX D1106Ifs*12 [nucleoplasm]
(Homo sapiens)
ATRX E1119* [nucleoplasm]
(Homo sapiens)
ATRX C1122Lfs*8 [nucleoplasm]
(Homo sapiens)
ATRX D1126Rfs*3 [nucleoplasm]
(Homo sapiens)
ATRX R1128Sfs*2 [nucleoplasm]
(Homo sapiens)
ATRX K1143Rfs*47 [nucleoplasm]
(Homo sapiens)
ATRX E1159* [nucleoplasm]
(Homo sapiens)
ATRX T1172Lfs*18 [nucleoplasm]
(Homo sapiens)
Participates
as an input of
Defective ATRX does not bind DAXX (Homo sapiens)
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