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ABL1 G250R - Gene Variant Detail

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Gene ABL1
Variant G250R
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ABL1 G250R lies within the protein kinase domain of the Abl1 protein (UniProt.org). G250R has been identified in the scientific literature (PMID: 17982022, PMID: 28801986), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Apr 2024).
Associated Drug Resistance
Category Variants Paths

ABL1 mutant ABL1 G250R

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Transcript NM_005157.6
gDNA chr9:g.130862961G>A
cDNA c.748G>A
Protein p.G250R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157.6 chr9:g.130862961G>A c.748G>A p.G250R RefSeq GRCh38/hg38
NM_005157 chr9:g.130862961G>A c.748G>A p.G250R RefSeq GRCh38/hg38
NM_005157.5 chr9:g.130862961G>A c.748G>A p.G250R RefSeq GRCh38/hg38

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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