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Gene | ABL1 |
Variant | R332W |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ABL1 R332W (corresponding to R351W in isoform IB) lies within the protein kinase domain of the Abl1 protein (UniProt.org). R332W results in increased Abl1 kinase activity, as demonstrated by modest increase in CRKL phosphorylation, and increased cytoplasmic retention of Abl1 in cell culture (PMID: 26758680). |
Associated Drug Resistance | |
Category Variants Paths |
ABL1 mutant ABL1 act mut ABL1 R332W |
Transcript | NM_005157.6 |
gDNA | chr9:g.130872946C>T |
cDNA | c.994C>T |
Protein | p.R332W |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157 | chr9:g.130872946C>T | c.994C>T | p.R332W | RefSeq | GRCh38/hg38 |
NM_005157.5 | chr9:g.130872946C>T | c.994C>T | p.R332W | RefSeq | GRCh38/hg38 |
NM_005157.6 | chr9:g.130872946C>T | c.994C>T | p.R332W | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
ABL1 R332W | lung adenocarcinoma | sensitive | Imatinib | Preclinical - Cell line xenograft | Actionable | In a preclinical study, Gleevec (imatinib) inhibited growth of a lung adenocarcinoma cell line harboring ABL1 R332W (also reported as R351W) in culture, and inhibited tumor growth in xenograft models (PMID: 26758680). | 26758680 |
ABL1 R332W | lung adenocarcinoma | sensitive | Dasatinib | Preclinical | Actionable | In a preclinical study, treatment with Sprycel (dasatinib) in decreased CRKL phosphorylation and reduced viability of lung adenocarcinoma cells harboring ABL1 R332W (also reported as R351W) in culture (PMID: 26758680). | 26758680 |