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| Gene | ABL1 |
| Variant | K294E |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ABL1 K294E lies within the protein kinase domain of the Abl1 protein (UniProt.org). K294E has been demonstrated to confer resistance to allosteric Abl1 inhibitors (PMID: 28329763), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2025). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
ABL1 mutant ABL1 K294E |
| Transcript | NM_005157.6 |
| gDNA | chr9:g.130872186A>G |
| cDNA | c.880A>G |
| Protein | p.K294E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005157 | chr9:g.130872186A>G | c.880A>G | p.K294E | RefSeq | GRCh38/hg38 |
| NM_005157.6 | chr9:g.130872186A>G | c.880A>G | p.K294E | RefSeq | GRCh38/hg38 |
| NM_005157.5 | chr9:g.130872186A>G | c.880A>G | p.K294E | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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