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| Gene | BTK |
| Variant | T316A |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | BTK T316A lies within the SH2 domain of the Btk protein (UniProt.org). T316A results in a partial increase in Btk autophosphorylation in an in vitro assay (PMID: 33226337), and confers resistance to Imbruvica (ibrutinib) in culture (PMID: 27626698), but has not been fully biochemically characterized, and therefore, its effect on Btk protein function is unknown. |
| Associated Drug Resistance | Y |
| Category Variants Paths |
BTK mutant BTK T316A |
| Transcript | NM_000061.3 |
| gDNA | chrX:g.101358645T>C |
| cDNA | c.946A>G |
| Protein | p.T316A |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000061.2 | chrX:g.101358645T>C | c.946A>G | p.T316A | RefSeq | GRCh38/hg38 |
| NM_001287345.1 | chrX:g.101358645T>C | c.946A>G | p.T316A | RefSeq | GRCh38/hg38 |
| NM_001287345 | chrX:g.101358645T>C | c.946A>G | p.T316A | RefSeq | GRCh38/hg38 |
| NM_000061.3 | chrX:g.101358645T>C | c.946A>G | p.T316A | RefSeq | GRCh38/hg38 |
| NM_000061 | chrX:g.101358645T>C | c.946A>G | p.T316A | RefSeq | GRCh38/hg38 |
| NM_001287345.2 | chrX:g.101358645T>C | c.946A>G | p.T316A | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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