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Gene | ABL1 |
Variant | D363G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | ABL1 D363G lies within the protein kinase domain of the Abl1 protein (UniProt.org). D363G has been associated with resistance to selected ABL1 inhibitors in the context of BCR-ABL1 (PMID: 37123466), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ABL1 mutant ABL1 D363G |
Transcript | NM_005157.6 |
gDNA | chr9:g.130874870A>G |
cDNA | c.1088A>G |
Protein | p.D363G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157.6 | chr9:g.130874870A>G | c.1088A>G | p.D363G | RefSeq | GRCh38/hg38 |
NM_005157.5 | chr9:g.130874870A>G | c.1088A>G | p.D363G | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ABL1 D363G | unknown |