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| Gene | ABL1 |
| Variant | E279K |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | ABL1 E279K lies within the protein kinase domain of the Abl1 protein (UniProt.org). E279K has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL1 (PMID: 21562040, PMID: 16754879), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
ABL1 mutant ABL1 E279K |
| Transcript | NM_005157.6 |
| gDNA | chr9:g.130872141G>A |
| cDNA | c.835G>A |
| Protein | p.E279K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005157.6 | chr9:g.130872141G>A | c.835G>A | p.E279K | RefSeq | GRCh38/hg38 |
| NM_005157 | chr9:g.130872141G>A | c.835G>A | p.E279K | RefSeq | GRCh38/hg38 |
| NM_005157.5 | chr9:g.130872141G>A | c.835G>A | p.E279K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|