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Gene | ABL1 |
Variant | G251D |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ABL1 G251D lies within the protein kinase domain of the Abl1 protein (UniProt.org). G251D has been identified in the scientific literature (PMID: 17947479), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Oct 2023). |
Associated Drug Resistance | |
Category Variants Paths |
ABL1 mutant ABL1 G251D |
Transcript | NM_005157.6 |
gDNA | chr9:g.130862965G>A |
cDNA | c.752G>A |
Protein | p.G251D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157.5 | chr9:g.130862965G>A | c.752G>A | p.G251D | RefSeq | GRCh38/hg38 |
NM_005157.6 | chr9:g.130862965G>A | c.752G>A | p.G251D | RefSeq | GRCh38/hg38 |
NM_005157 | chr9:g.130862965G>A | c.752G>A | p.G251D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ABL1 G250R ABL1 G251D | oral cavity cancer | no benefit | Nilotinib | Case Reports/Case Series | Actionable | In a clinical case study, Tasigna (nilotinib) treatment resulted in no benefit in a patient with oral cavity cancer harboring ABL1 G250R and G251D (PMID: 28514312). | 28514312 |