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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, Aug 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
ABL1 mutant ABL1 K357dup |
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_005157.5 | chr9:g.130873025_130873026insGAA | c.1073_1074insGAA | p.K357dup | RefSeq | GRCh38/hg38 |
NM_005157.6 | chr9:g.130873021_130873023 | c.1069_1071 | p.K357 | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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