Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519825
rs1057519825
BTK
0.050 GeneticVariation BEFREE Additionally, ARQ 531 inhibits CLL cell survival and suppresses BCR-mediated activation of C481S BTK and PLCγ2 mutants, which facilitate clinical resistance to ibrutinib.<b>Significance:</b> This study characterizes a rationally designed kinase inhibitor with efficacy in models recapitulating the most common mechanisms of acquired resistance to ibrutinib. 30093506

2018
dbSNP: rs1057519825
rs1057519825
BTK
0.050 GeneticVariation BEFREE Collectively, these data provide a basis for further preclinical study of BTK PROTACs as a novel strategy for treatment of C481S mutant CLL. 29851337

2018
dbSNP: rs1057519825
rs1057519825
BTK
0.050 GeneticVariation BEFREE Noncovalent inhibition of C481S Bruton tyrosine kinase by GDC-0853: a new treatment strategy for ibrutinib-resistant CLL. 30018078

2018
dbSNP: rs1057519825
rs1057519825
BTK
0.050 GeneticVariation BEFREE We have also made the novel and clinically relevant discovery that inhibition of HDAC induces the BTK-targeting miRs in ibrutinib-sensitive and resistant CLL to effectively reduce both wild-type and C481S-mutant BTK. 27756747

2016
dbSNP: rs1057519825
rs1057519825
BTK
0.050 GeneticVariation BEFREE We previously reported the identification of BTK(C481S) mutation in a CLL patient who progressed following 21-month ibrutinib therapy. 25189416

2015