Gene Detail

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Gene Symbol CBL
Synonyms C-CBL | CBL2 | FRA11B | NSLL | RNF55
Gene Description CBL, Cbl proto-oncogene C, is an E3 ubiquitin-protein ligase involved in cell signaling and ubiquitination of tyrosine kinases (PMID: 23085373). CBL mutations, often resulting in a loss of function, have been identified primarily in myeloid neoplasms, including myelodysplastic syndrome, acute myeloid leukemia, chronic myeloid leukemia, myelofibrosis, and juvenile myelomonocytic leukemia (PMID: 25477533).

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Molecular Profile Protein Effect Treatment Approaches
CBL A186V unknown
CBL A678D unknown
CBL A757T unknown
CBL A848T unknown
CBL A848V unknown
CBL A850V unknown
CBL A877V unknown
CBL A881T unknown
CBL act mut gain of function
CBL C381A loss of function - predicted FLT3 Inhibitor
CBL C381G unknown
CBL C381R loss of function - predicted FLT3 Inhibitor
CBL C381Y unknown
CBL C384G loss of function FLT3 Inhibitor
CBL C384R loss of function FLT3 Inhibitor
CBL C384W unknown
CBL C384Y unknown
CBL C396R loss of function - predicted FLT3 Inhibitor
CBL C396Y unknown
CBL C401F unknown
CBL C401R unknown
CBL C401Y unknown
CBL C404R unknown
CBL C404Y unknown
CBL C416R unknown
CBL C416S unknown
CBL C416W unknown
CBL C416Y unknown
CBL C419R unknown
CBL D459V unknown
CBL D460del unknown
CBL D501H unknown
CBL dec exp no effect
CBL del loss of function FLT3 Inhibitor
CBL del CBLB del
CBL E143D unknown
CBL E276K unknown
CBL E366K unknown
CBL E366_K382del loss of function FLT3 Inhibitor
CBL E369_Y371del unknown
CBL E815D unknown
CBL E886* unknown
CBL E894* unknown
CBL E894G unknown
CBL F418I unknown
CBL F418V unknown
CBL F622C unknown
CBL G375P loss of function - predicted FLT3 Inhibitor
CBL G397V unknown
CBL G413R unknown
CBL G415S unknown
CBL G415V unknown
CBL G816S unknown
CBL G868E unknown
CBL G868V unknown
CBL H398P unknown
CBL H398Q loss of function - predicted FLT3 Inhibitor
CBL H398R unknown
CBL H398Y loss of function FLT3 Inhibitor
CBL H661P unknown
CBL H903L unknown
CBL H94Y unknown
CBL I383L loss of function FLT3 Inhibitor
CBL I98T unknown
CBL inact mut loss of function FLT3 Inhibitor
CBL K322T unknown
CBL K382E loss of function - predicted FLT3 Inhibitor
CBL K477M unknown
CBL L281H unknown
CBL L380P unknown
CBL L399P loss of function FLT3 Inhibitor
CBL L399V loss of function - predicted FLT3 Inhibitor
CBL L405P unknown
CBL L405R unknown
CBL L467V unknown
CBL L620F unknown
CBL L857* loss of function
CBL L878F unknown
CBL L892F unknown
CBL M374V no effect - predicted
CBL M400R unknown
CBL M469I unknown
CBL M487V unknown
CBL mutant unknown
CBL N832I unknown
CBL N890fs unknown
CBL P201S unknown
CBL P395A loss of function - predicted FLT3 Inhibitor
CBL P417A loss of function FLT3 Inhibitor
CBL P417H unknown
CBL P417L unknown
CBL P428L no effect - predicted
CBL P433Q unknown
CBL P484S unknown
CBL P532S unknown
CBL P546L unknown
CBL P703L unknown
CBL Q249E gain of function - predicted
CBL Q365_E366insSK loss of function FLT3 Inhibitor
CBL Q365_E366insSK FLT3 wild-type
CBL Q365_E366insSK FLT3 pos
CBL Q367K loss of function FLT3 Inhibitor
CBL Q367P loss of function FLT3 Inhibitor
CBL Q367R unknown
CBL Q867* unknown
CBL Q875* unknown
CBL Q882H unknown
CBL R149Q unknown
CBL R343* loss of function - predicted
CBL R420* loss of function - predicted FLT3 Inhibitor
CBL R420G unknown
CBL R420L unknown
CBL R420P unknown FLT3 Inhibitor
CBL R420Q loss of function FLT3 Inhibitor
CBL R437I unknown
CBL R499Q unknown
CBL R559Q unknown
CBL R709Q unknown
CBL R788Q unknown
CBL R822G unknown
CBL R822T unknown
CBL R830K unknown
CBL R893L unknown
CBL R96S unknown
CBL S217C unknown
CBL S217Y unknown
CBL S253F unknown
CBL S376F loss of function FLT3 Inhibitor
CBL S403F unknown
CBL S675F unknown
CBL S80N unknown
CBL T426A unknown
CBL V391I loss of function FLT3 Inhibitor
CBL V430M no effect - predicted
CBL V478L unknown
CBL V813I unknown
CBL W408L unknown
CBL W802* loss of function - predicted FLT3 Inhibitor
CBL wild-type no effect
CBL Y274F no effect - predicted
CBL Y291F no effect - predicted
CBL Y307F no effect - predicted
CBL Y337F no effect - predicted
CBL Y368C loss of function FLT3 Inhibitor
CBL Y368F no effect - predicted
CBL Y368_K382del unknown
CBL Y371C loss of function FLT3 Inhibitor
CBL Y371D loss of function - predicted FLT3 Inhibitor
CBL Y371del loss of function - predicted
CBL Y371del FLT3 pos
CBL Y371F loss of function
CBL Y371H loss of function FLT3 Inhibitor
CBL Y371H FLT3 wild-type
CBL Y371H FLT3 pos
CBL Y371S loss of function FLT3 Inhibitor
CBL Y455_D456del unknown
CBL Y92A no effect - predicted