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Gene | PTEN |
Variant | E291Gfs*7 |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN E291Gfs*7 indicates a shift in the reading frame starting at amino acid 291 and terminating 7 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). E291Gfs*7 results in loss of Pten expression in cell culture (PMID: 35012940), and based on the effects of other truncation mutations downstream of E291 (PMID: 10468583), is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN E291Gfs*7 |
Transcript | NM_000314.8 |
gDNA | chr10:g.87960963dupG |
cDNA | c.871dupG |
Protein | p.E291Gfs*7 |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87960963dupG | c.871dupG | p.E291Gfs*7 | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87960963dupG | c.871dupG | p.E291Gfs*7 | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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