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Gene | ABL1 |
Variant | K596* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ABL1 K596* results in a premature truncation of the Abl1 protein at amino acid 596 of 1130 (UniProt.org). Due to the loss of multiple functional domains, including the DNA-binding domain (UniProt.org), K596* is predicted to lead to a loss of Abl1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ABL1 mutant ABL1 inact mut ABL1 K596* |
Transcript | NM_005157.6 |
gDNA | chr9:g.130884076A>T |
cDNA | c.1786A>T |
Protein | p.K596* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157.6 | chr9:g.130884076A>T | c.1786A>T | p.K596* | RefSeq | GRCh38/hg38 |
NM_005157 | chr9:g.130884076A>T | c.1786A>T | p.K596* | RefSeq | GRCh38/hg38 |
NM_005157.5 | chr9:g.130884076A>T | c.1786A>T | p.K596* | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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