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Gene ABL1
Variant G250E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ABL1 G250E lies within the protein kinase domain of the Abl1 protein (UniProt.org). G250E has been demonstrated to occur as a secondary drug resistance mutation in the context of BCR-ABL (PMID: 21562040), and results in increased catalytic efficiency (kcat/km) in an in vitro assay (PMID: 30684523), but has not been fully characterized and therefore, its effect on Abl1 protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

ABL1 mutant ABL1 G250E

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Transcript NM_005157.6
gDNA chr9:g.130862962G>A
cDNA c.749G>A
Protein p.G250E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157.5 chr9:g.130862962G>A c.749G>A p.G250E RefSeq GRCh38/hg38
NM_005157.6 chr9:g.130862962G>A c.749G>A p.G250E RefSeq GRCh38/hg38
NM_005157 chr9:g.130862962G>A c.749G>A p.G250E RefSeq GRCh38/hg38

Filtering

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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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries