PTEN D268Gfs*30
Gene Variant Detail

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Gene PTEN
Variant D268Gfs*30
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions PTEN D268Gfs*30 indicates a shift in the reading frame starting at amino acid 268 and terminating 30 residues downstream causing a premature truncation of the 403 amino acid Pten protein (UniProt.org). D268Gfs*30 has not been characterized, however, due to the effects of other truncation mutations downstream of D268 (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 D268Gfs*30

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Transcript NM_000314.8
gDNA chr10:g.87960894dupG
cDNA c.802dupG
Protein p.D268Gfs*30
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87960894dupG c.802dupG p.D268Gfs*30 RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87960894dupG c.802dupG p.D268Gfs*30 RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries