PTEN E291Gfs*7
Gene Variant Detail

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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

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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_000314.6 chr10:g.87960963dupG c.871dupG p.E291Gfs*7 RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87960963dupG c.871dupG p.E291Gfs*7 RefSeq GRCh38/hg38

Filtering

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References