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Gene ABL1
Variant A344P
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions ABL1 A344P (corresponds to A363P in isoform IB) lies within the protein kinase domain of the Abl1 protein (UniProt.org). A344P is associated with resistance to some Abl1 inhibitors (PMID: 31543464), and results in increased Abl1 phosphorylation and transformation activity when expressed in the Abl1 1B splice isoform (PMID: 27890928), 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 A344P

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Transcript NM_005157.6
gDNA chr9:g.130872982G>C
cDNA c.1030G>C
Protein p.A344P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157 chr9:g.130872982G>C c.1030G>C p.A344P RefSeq GRCh38/hg38
NM_005157.5 chr9:g.130872982G>C c.1030G>C p.A344P RefSeq GRCh38/hg38
NM_005157.6 chr9:g.130872982G>C c.1030G>C p.A344P RefSeq GRCh38/hg38

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