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ABL1 G321L - Gene Variant Detail

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Gene ABL1
Variant G321L
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions ABL1 G321L (corresponding to G340L in isoform IB) lies within the protein kinase domain of the Abl1 protein (UniProt.org). G321L does not result in increased phosphorylation of Crkl by Abl1, but leads to increased cytoplasmic Abl1 retention and is associated with increased cell survival in culture (PMID: 26758680), and therefore, is predicted to lead to a gain of Abl1 protein function.
Associated Drug Resistance
Category Variants Paths

ABL1 mutant ABL1 act mut ABL1 G321L

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Transcript NM_005157.6
gDNA chr9:g.130872913_130872914delGGinsCT
cDNA c.961_962delGGinsCT
Protein p.G321L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157 chr9:g.130872913_130872914delGGinsCT c.961_962delGGinsCT p.G321L RefSeq GRCh38/hg38
NM_005157.6 chr9:g.130872913_130872914delGGinsCT c.961_962delGGinsCT p.G321L RefSeq GRCh38/hg38
NM_005157.5 chr9:g.130872913_130872914delGGinsCT c.961_962delGGinsCT p.G321L RefSeq GRCh38/hg38

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