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Gene | BTK |
Variant | L528S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | BTK L528S lies within the protein kinase domain of the Btk protein (UniProt.org). L528S results in loss of kinase activity and reduced Btk and Plcg2 phosphorylation, increased Akt phosphorylation, and a greater sustained calcium influx upon IgM stimulation, and demonstrates resistance to BTK inhibitors in culture (PMID: 36661329). |
Associated Drug Resistance | Y |
Category Variants Paths |
BTK mutant BTK inact mut BTK L528S |
Transcript | NM_000061.3 |
gDNA | chrX:g.101354678A>G |
cDNA | c.1583T>C |
Protein | p.L528S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000061.3 | chrX:g.101354678A>G | c.1583T>C | p.L528S | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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