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| Gene | BTK |
| Variant | T474F |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | BTK T474F lies within the protein kinase domain of the Btk protein (UniProt.org). T474F results in kinase activity similar to wild-type Btk as demonstrated by autophosphorylation levels of Y223 similar to wild-type protein in cell culture (PMID: 33526860), and therefore, is predicted to have no effect on Btk protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
BTK mutant BTK T474F |
| Transcript | NM_000061.3 |
| gDNA | chrX:g.101356197_101356198delACinsTT |
| cDNA | c.1420_1421delACinsTT |
| Protein | p.T474F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000061.3 | chrX:g.101356197_101356198delACinsTT | c.1420_1421delACinsTT | p.T474F | RefSeq | GRCh38/hg38 |
| NM_000061.2 | chrX:g.101356197_101356198delACinsTT | c.1420_1421delACinsTT | p.T474F | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| BTK T474F | no effect - predicted |