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Gene | ABL1 |
Variant | R577* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | ABL1 R577* results in a premature truncation of the Abl1 protein at amino acid 577 of 1130 (UniProt.org). Due to the loss of multiple functional domains, including the DNA-binding domain (UniProt.org), R577* is predicted to lead to a loss of Abl1 protein function. |
Associated Drug Resistance | |
Category Variants Paths |
ABL1 mutant ABL1 inact mut ABL1 R577* |
Transcript | NM_005157.6 |
gDNA | chr9:g.130884019C>T |
cDNA | c.1729C>T |
Protein | p.R577* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_005157 | chr9:g.130884019C>T | c.1729C>T | p.R577* | RefSeq | GRCh38/hg38 |
NM_005157.6 | chr9:g.130884019C>T | c.1729C>T | p.R577* | RefSeq | GRCh38/hg38 |
NM_005157.5 | chr9:g.130884019C>T | c.1729C>T | p.R577* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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