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Gene | ABL1 |
Variant | V468F |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | ABL1 V468F lies within the protein kinase domain of the Abl1 protein (UniProt.org). V468F has been demonstrated to confer resistance to allosteric Abl1 inhibitors (PMID: 28329763, PMID: 27890928) and results in increased kinase activity and transformation in cultured cells (PMID: 27890928). |
Associated Drug Resistance | Y |
Category Variants Paths |
ABL1 mutant ABL1 act mut ABL1 V468F |
Transcript | NM_005157.6 |
gDNA | chr9:g.130878546G>T |
cDNA | c.1402G>T |
Protein | p.V468F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157.5 | chr9:g.130878546G>T | c.1402G>T | p.V468F | RefSeq | GRCh38/hg38 |
NM_005157 | chr9:g.130878546G>T | c.1402G>T | p.V468F | RefSeq | GRCh38/hg38 |
NM_005157.6 | chr9:g.130878546G>T | c.1402G>T | p.V468F | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ABL1 V468F | gain of function |