Identifier | Name |
---|---|
R-HSA-5251562 | Deletions in the AXIN1 gene prevent expression of AXIN1 protein |
R-HSA-5251559 | Deletions of the AMER1 gene prevent expression of AMER1 protein |
R-HSA-3642203 | Dimeric TGFB1 does not bind TGFBR2 MSI frameshift mutants |
R-HSA-5638137 | EGFRvIII cancer variant does not bind EGF ligand |
R-HSA-5637794 | EGFRvIII does not bind CBL |
R-HSA-9665280 | ERBB2 KD mutants do not bind osimertinib |
R-HSA-9665315 | ERBB2 T733I does not bind tesevatinib |
R-HSA-9665311 | ERBB2 T798M does not bind afatinib |
R-HSA-9665304 | ERBB2 T862A does not bind sapitinib |
R-HSA-9665708 | ERBB2 TMD/JMD mutants do not bind pertuzumab |
R-HSA-9670189 | F8 variant does not bind the cell membrane |
R-HSA-9665809 | F8 variant does not bind von Willebrand factor |
R-HSA-9666383 | F8 variant is not cleaved by thrombin |
R-HSA-9661980 | F8 variant is not secreted |
R-HSA-9668148 | F8 variant is not sulfonated at Y1699 |
R-HSA-9670888 | F9 variant is not secreted |
R-HSA-2220978 | FBXW7 WD mutants do not bind NICD1 |
R-HSA-9673223 | FIX(29-461) variant is not activated (factor XIa catalyst) |
R-HSA-9670874 | FIXa variant:FVIIIa does not convert FX to the active FXa |
R-HSA-9668365 | FVIIIa variant:FIXa does not convert FX to the active FXa |
R-HSA-9673231 | GGCX does not gamma-carboxylate 3D-F9(29-461) (pro-factor IX) |
R-HSA-9710468 | GSDME variant does not bind PIPs |
R-HSA-5483229 | HHAT G287V doesn't palmitoylate Hh-Np |
R-HSA-5358460 | HPE SHH variants don't undergo autoproteolytic cleavage |
R-HSA-5602603 | IRAK4 deficiency blocks formation of the MyD88-IRAK4 Myddosome in the TLR5 pathway |
R-HSA-9669859 | Imatinib-resistant KIT mutants do not bind imatinib |
R-HSA-9674397 | Imatinib-resistant PDGFR mutants don't bind imatinib |
R-HSA-1225956 | Inefficient ubiquitination of ligand-responsive p-6Y-EGFR mutants by p-Y371-CBL |
R-HSA-9702570 | KW2449-resistant FLT3 mutants don't bind KW2449 |
R-HSA-6802837 | Loss-of-function NF1 variants don't stimulate RAS GTPase activity |
R-HSA-9023461 | MECP2 T158A:SIN3A complex does not bind BDNF gene promoter |
R-HSA-9005585 | MECP2 mutants P302R,K304E,K305R,R306C,(R306H) do not bind NCoR/SMRT complex |
R-NUL-9005752 | MECP2 mutants P302R,K304E,K305R,R306C,(R306H) do not bind NCoR/Smrt complex |
R-HSA-9022465 | MECP2 mutants R106W, D121G, R133H, S134F, T158M and T158A do not bind to 5mC-DNA |
R-HSA-9022462 | MECP2 mutants R133C ,D121G, R133H and S134F do not bind 5hmC-DNA |
R-HSA-5545484 | MLH1 variants-defective DNA mismatch repair |
R-HSA-5577259 | MSH2 variant:MSH3-defective DNA mismatch repair |
R-HSA-5577244 | MSH2 variant:MSH6-defective DNA mismatch repair |
R-HSA-5578663 | MSH3 variant:MSH2-defective DNA mismatch repair |
R-HSA-5632970 | MSH6 variant:MSH2-defective DNA mismatch repair |
R-HSA-9669863 | Masitinib-resistant KIT mutants do not bind masitinib |
R-HSA-5339713 | Misspliced GSK3beta mutants stabilize beta-catenin levels |
R-HSA-9628737 | NEIL1 G83D does not cleave DHU |
R-HSA-9628756 | NEIL1 G83D does not cleave FapyA |
R-HSA-9628758 | NEIL1 G83D does not cleave FapyG |
R-HSA-9629917 | NEIL1 Q282TER does not translocate to the nucleus |
R-HSA-9629245 | NEIL3 D132V does not cleave 5-guanidinohydantoin (Gh) |
R-HSA-5228811 | NFKBIA variant is not phosphorylated within IkBA:NF-kappaB |
R-HSA-2660819 | NOTCH1 t(7;9)(NOTCH1:M1580_K2555) does not bind DLL1 |
R-HSA-2660815 | NOTCH1 t(7;9)(NOTCH1:M1580_K2555) does not bind DLL4 |
R-HSA-2660822 | NOTCH1 t(7;9)(NOTCH1:M1580_K2555) does not bind JAG1 |
R-HSA-2660816 | NOTCH1 t(7;9)(NOTCH1:M1580_K2555) does not bind JAG2 |
R-HSA-9630055 | NTHL1 D239Y does not cleave dihydrouracil (DHU) |
R-HSA-9630053 | NTHL1 D239Y does not cleave thymine glycol (Tg) |
R-HSA-9700114 | NVP-TAE684-resistant ALK mutants don't bind NVP-TAE684 |
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