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| Gene | BTK |
| Variant | T474I |
| Impact List | missense |
| Protein Effect | no effect |
| Gene Variant Descriptions | BTK T474I lies within the protein kinase domain of the Btk protein (UniProt.org). T474I demonstrates kinase activity similar to wild-type Btk in cultured cells (PMID: 27571029, PMID: 28573668, PMID: 33526860). |
| Associated Drug Resistance | |
| Category Variants Paths |
BTK mutant BTK T474I |
| Transcript | NM_000061.3 |
| gDNA | chrX:g.101356197G>A |
| cDNA | c.1421C>T |
| Protein | p.T474I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000061.3 | chrX:g.101356197G>A | c.1421C>T | p.T474I | RefSeq | GRCh38/hg38 |
| NM_000061.2 | chrX:g.101356197G>A | c.1421C>T | p.T474I | RefSeq | GRCh38/hg38 |
| NM_000061 | chrX:g.101356197G>A | c.1421C>T | p.T474I | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| BTK T474I | no effect | |
| BTK T474I BTK C481S | ||
| BTK T474I BTK C481S BTK L528W | ||
| BTK T474I BTK C481R | ||
| BTK T474I BTK L528W | ||
| BTK E108K BTK T474I BTK C481S BTK L528W |