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| Gene | BTK |
| Variant | C481T |
| Impact List | missense |
| Protein Effect | no effect |
| Gene Variant Descriptions | BTK C481T lies within the protein kinase domain of the Btk protein (UniProt.org). C481T demonstrates kinase activity similar to wild-type Btk, but confers Imbruvica (ibrutinib) resistance in cell culture (PMID: 27282255). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
BTK mutant BTK C481X BTK C481T |
| Transcript | NM_000061.3 |
| gDNA | chrX:g.101356176_101356177delTGinsAC |
| cDNA | c.1441_1442delTGinsAC |
| Protein | p.C481T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000061.2 | chrX:g.101356176_101356177delTGinsAC | c.1441_1442delTGinsAC | p.C481T | RefSeq | GRCh38/hg38 |
| NM_000061.3 | chrX:g.101356176_101356177delTGinsAC | c.1441_1442delTGinsAC | p.C481T | RefSeq | GRCh38/hg38 |
| NM_000061 | chrX:g.101356176_101356177delCAinsGT | c.1441_1442delTGinsAC | p.C481T | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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