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Gene | ABL1 |
Variant | R362fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ABL1 R362fs results in a change in the amino acid sequence of the Abl1 protein beginning at aa 362 of 1130, likely resulting in premature truncation of the functional protein (UniProt.org). Due the loss of multiple functional domains, including the DNA-binding domain (UniProt.org), R362fs is predicted to lead to a loss of Abl1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ABL1 mutant ABL1 inact mut ABL1 R362fs |
Transcript | NM_005157.6 |
gDNA | chr9:g.(130873035_130873036) |
cDNA | c.(1084_1083) |
Protein | p.R362fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157 | chr9:g.(130873035_130873036) | c.(1084_1083) | p.R362fs | RefSeq | GRCh38/hg38 |
NM_005157.5 | chr9:g.(130873035_130873036) | c.(1084_1083) | p.R362fs | RefSeq | GRCh38/hg38 |
NM_005157.6 | chr9:g.(130873035_130873036) | c.(1084_1083) | p.R362fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
ABL1 R362fs | loss of function - predicted |