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Gene ABL1
Variant K357dup
Impact List duplication
Protein Effect unknown
Gene Variant Descriptions ABL1 K357dup indicates the insertion of the duplicate amino acid, lysine (K)-357, in the protein kinase domain of the Abl1 protein (UniProt.org). K357dup has been demonstrated to occur as a secondary resistance mutation in the context of BCR-ABL1 (PMID: 22387050), but has not been biochemically characterized and therefore, its effect on Abl1 protein function is unknown (PubMed, Jan 2024).
Associated Drug Resistance Y
Category Variants Paths

ABL1 mutant ABL1 K357dup

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Transcript NM_005157.6
gDNA chr9:g.130873021_130873023
cDNA c.1069_1071
Protein p.K357
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005157.6 chr9:g.130873021_130873023 c.1069_1071 p.K357 RefSeq GRCh38/hg38
NM_005157.5 chr9:g.130873025_130873026insGAA c.1073_1074insGAA p.K357dup RefSeq GRCh38/hg38

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