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Gene ABL1
Variant E255K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions ABL1 E255K lies within the protein kinase domain of the Abl1 protein (UniProt.org). E255K demonstrates catalytic efficiency (kcat/km) similar to wild-type Abl1 in an in vitro assay (PMID: 30684523), results in increased autophosphorylation and Stat5 phosphorylation in the context of BCR-ABL1, and has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL (PMID: 15194504), but has not been fully biochemically characterized and therefore, its effect on Abl1 protein function is unknown.
Associated Drug Resistance Y
Category Variants Paths

ABL1 mutant ABL1 E255K

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Transcript NM_005157.6
gDNA chr9:g.130862976G>A
cDNA c.763G>A
Protein p.E255K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157 chr9:g.130862976G>A c.763G>A p.E255K RefSeq GRCh38/hg38
NM_005157.5 chr9:g.130862976G>A c.763G>A p.E255K RefSeq GRCh38/hg38
NM_005157.6 chr9:g.130862976G>A c.763G>A p.E255K RefSeq GRCh38/hg38
NM_007313.3 chr9:g.130862919G>A c.763G>A p.E255K RefSeq GRCh38/hg38
NM_007313.2 chr9:g.130862919G>A c.763G>A p.E255K RefSeq GRCh38/hg38
NM_007313 chr9:g.130862919G>A c.763G>A p.E255K RefSeq GRCh38/hg38

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