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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_005157.5 | chr9:g.130872946C>T | c.994C>T | p.R332W | RefSeq | GRCh38/hg38 |
NM_005157 | 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 | Protein Effect | Treatment Approaches |
---|---|---|
ABL1 R332W | gain of function | |
ABL1 T315I ABL1 R332W |