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Gene ABL1
Variant D276G
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions ABL1 D276G lies within the protein kinase domain of the Abl1 protein (UniProt.org). D276G results in increased kinase activity in an in vitro assay and has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL (PMID: 15510211), and therefore, is predicted to lead to a gain of Abl1 protein function.
Associated Drug Resistance Y
Category Variants Paths

ABL1 mutant ABL1 act mut ABL1 D276G

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Transcript NM_005157.6
gDNA chr9:g.130872133A>G
cDNA c.827A>G
Protein p.D276G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157 chr9:g.130872133A>G c.827A>G p.D276G RefSeq GRCh38/hg38
NM_005157.5 chr9:g.130872133A>G c.827A>G p.D276G RefSeq GRCh38/hg38
NM_005157.6 chr9:g.130872133A>G c.827A>G p.D276G RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References