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| Gene | BTK |
| Variant | M437R |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | BTK M437R lies within the protein kinase domain of the Btk protein (UniProt.org). M437R retains Akt and Erk phosphorylation, but results in increased calcium ion flux, decreased Btk and Plcg2 phosphorylation in culture (PMID: 35196427), and decreased kinase activity in an in vitro assay (PMID: 38301010), and demonstrates resistance to BTK inhibitors in culture (PMID: 35196427), and therefore, its effect on Btk protein function is unknown. |
| Associated Drug Resistance | Y |
| Category Variants Paths |
BTK mutant BTK M437R |
| Transcript | NM_000061.3 |
| gDNA | chrX:g.101356823A>C |
| cDNA | c.1310T>G |
| Protein | p.M437R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000061.2 | chrX:g.101356823A>C | c.1310T>G | p.M437R | RefSeq | GRCh38/hg38 |
| NM_000061.3 | chrX:g.101356823A>C | c.1310T>G | p.M437R | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|