Gene Detail

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Gene Symbol BTK
Synonyms AGMX1 | AT | ATK | BPK | IGHD3 | IMD1 | PSCTK1 | XLA
Gene Description BTK, Bruton tyrosine kinase, is a non-receptor tyrosine kinase involved in B-cell activation and development (PMID: 24658273). BTK is commonly overexpressed in various hematological malignancies (PMID: 24658273) and BTK mutations have been linked to BTK inhibitor drug resistance (PMID: 28235842).

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Molecular Profile Protein Effect Treatment Approaches
BTK A428D unknown
BTK A508T unknown
BTK A582T unknown
BTK A582V loss of function
BTK A622P unknown
BTK act mut gain of function
BTK C145* loss of function
BTK C481A unknown
BTK C481F loss of function
BTK C481R loss of function
BTK C481R BTK L528W
BTK T474I BTK C481R
BTK C481S no effect
BTK C481S TP53 wild-type
BTK T474A BTK C481S
BTK T474S BTK C481S
BTK T474I BTK C481S
BTK T474M BTK C481S
BTK M437R BTK C481S
BTK T474I BTK C481S BTK L528W
BTK C481S BTK L528W
BTK C481T no effect
BTK T474M BTK C481T
BTK C481X unknown
BTK D539N unknown
BTK D57N unknown
BTK del loss of function
BTK E108K unknown
BTK E280* loss of function - predicted
BTK E41K gain of function
BTK E445D unknown
BTK E567D unknown
BTK E589D unknown
BTK E589G unknown
BTK E88K unknown
BTK E90K unknown
BTK G259W unknown
BTK G594E unknown
BTK H364N unknown
BTK H491D unknown
BTK H491Y unknown
BTK I167V unknown
BTK I331M unknown
BTK I370M loss of function - predicted
BTK inact mut loss of function
BTK K176Q unknown
BTK K218N unknown
BTK K430E loss of function
BTK K430R loss of function
BTK K433T loss of function
BTK L233P unknown
BTK L244* loss of function - predicted
BTK L294M unknown
BTK L295P loss of function - predicted
BTK L369F loss of function
BTK L460* loss of function - predicted
BTK L528W unknown
BTK T474I BTK L528W
BTK L647F unknown
BTK M437R unknown
BTK M509I unknown
BTK mutant unknown
BTK N161fs loss of function - predicted
BTK over exp no effect BTK inhibitor
BTK P189A loss of function
BTK P190K unknown
BTK P204_Y263del unknown
BTK P22H unknown
BTK P22L unknown
BTK P265L loss of function
BTK P376S unknown
BTK P566L loss of function
BTK P597S loss of function
BTK positive unknown
BTK Q15* loss of function - predicted
BTK Q166* loss of function - predicted
BTK Q166K unknown
BTK Q497* loss of function - predicted
BTK R13* loss of function - predicted
BTK R171S unknown
BTK R255* loss of function
BTK R255Q unknown
BTK R288Q loss of function - predicted
BTK R288W loss of function - predicted
BTK R28C loss of function
BTK R307G loss of function - predicted
BTK R307K loss of function
BTK R307T loss of function - predicted
BTK R332H unknown
BTK R46C unknown
BTK R490C unknown
BTK R492H unknown
BTK R520* loss of function - predicted
BTK R520Q loss of function - predicted
BTK R525G unknown
BTK R544M unknown
BTK R544W unknown
BTK R562W loss of function - predicted
BTK R77S unknown
BTK S115F unknown
BTK S180F unknown
BTK S21* loss of function - predicted
BTK S247N unknown
BTK S289N unknown
BTK S51N unknown
BTK S553R unknown
BTK S55A unknown
BTK S592F unknown
BTK T117P unknown
BTK T316A unknown
BTK T474A loss of function - predicted
BTK T474E no effect - predicted
BTK T474F no effect - predicted
BTK T474I no effect
BTK T474L gain of function - predicted
BTK T474M no effect
BTK T474N loss of function - predicted
BTK T474P loss of function - predicted
BTK T474Q no effect - predicted
BTK T474S no effect - predicted
BTK T474V no effect - predicted
BTK V336L unknown
BTK V416A unknown
BTK V416L unknown
BTK V568I loss of function
BTK W124* loss of function - predicted
BTK W251L no effect - predicted
BTK W251R unknown
BTK W252* loss of function - predicted
BTK W588* unknown
BTK W588C unknown
BTK wild-type no effect
BTK Y112* loss of function - predicted
BTK Y223F loss of function
BTK Y315* loss of function - predicted
BTK Y315N unknown
BTK Y334C unknown
BTK Y334S loss of function - predicted
BTK Y361C loss of function - predicted
BTK Y361H unknown
BTK Y375* loss of function - predicted
BTK Y40C unknown
BTK Y551F loss of function
BTK Y591* unknown
BTK Y627C unknown