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| Gene | BTK |
| Variant | T474A |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | BTK T474A lies within the protein kinase domain of the Btk protein (UniProt.org). T474A confers a loss of function to Btk as demonstrated by reduced kinase activity in cell culture (PMID: 33526860, PMID: 21138328). |
| Associated Drug Resistance | |
| Category Variants Paths |
BTK mutant BTK inact mut BTK T474A |
| Transcript | NM_000061.3 |
| gDNA | chrX:g.101356198T>C |
| cDNA | c.1420A>G |
| Protein | p.T474A |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000061.3 | chrX:g.101356198T>C | c.1420A>G | p.T474A | RefSeq | GRCh38/hg38 |
| NM_000061.2 | chrX:g.101356198T>C | c.1420A>G | p.T474A | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| BTK T474A | Advanced Solid Tumor | predicted - sensitive | Ibrutinib | Preclinical - Biochemical | Actionable | In a preclinical study, treatment with Imbruvica (ibrutinib) resulted in reduced Btk activity in cell lines expressing BTK T474A in culture (PMID: 33526860). | 33526860 |
| BTK T474A | Advanced Solid Tumor | predicted - sensitive | Fenebrutinib | Preclinical - Biochemical | Actionable | In a preclinical study, treatment with Fenebrutinib (GDC-0853) resulted in reduced Btk activity in a cell line expressing BTK T474A in culture (PMID: 33526860). | 33526860 |