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Gene ABL1
Variant P230E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ABL1 P230E does not lie within any known functional domains of the Abl1 protein (UniProt.org). P230E combined with ABL1 P232E results in constitutive activation of Abl1 in an in vitro kinase assay (PMID: 20519627) and increased phosphorylation in cultured cells (PMID: 18354488), but has not been individually characterized and therefore, its effect on Abl1 protein function is unknown.
Associated Drug Resistance
Category Variants Paths

ABL1 mutant ABL1 P230E

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Transcript NM_005157.6
gDNA chr9:g.130862901_130862903delCCCinsGAG
cDNA c.688_690delCCCinsGAG
Protein p.P230E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157.5 chr9:g.130862901_130862903delCCCinsGAG c.688_690delCCCinsGAG p.P230E RefSeq GRCh38/hg38
NM_005157.6 chr9:g.130862901_130862903delCCCinsGAG c.688_690delCCCinsGAG p.P230E RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • 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