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| Gene | ABL1 |
| Variant | V468F |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | ABL1 V468F lies within the protein kinase domain of the Abl1 protein (UniProt.org). V468F has been demonstrated to confer resistance to allosteric Abl1 inhibitors (PMID: 28329763, PMID: 27890928) and results in increased kinase activity and transformation in cultured cells (PMID: 27890928). |
| Associated Drug Resistance | Y |
| Category Variants Paths |
ABL1 mutant ABL1 act mut ABL1 V468F |
| Transcript | NM_005157.6 |
| gDNA | chr9:g.130878546G>T |
| cDNA | c.1402G>T |
| Protein | p.V468F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_005157.6 | chr9:g.130878546G>T | c.1402G>T | p.V468F | RefSeq | GRCh38/hg38 |
| NM_005157.5 | chr9:g.130878546G>T | c.1402G>T | p.V468F | RefSeq | GRCh38/hg38 |
| NM_005157 | chr9:g.130878546G>T | c.1402G>T | p.V468F | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|