Gene Variant Detail

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Gene PTEN
Variant T319*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions PTEN T319* results in a premature truncation of the Pten protein at amino acid 254 of 403 (UniProt.org). T319* results in decreased Pten protein stability, failure to inhibit Akt phosphorylation and cell transformation in culture (PMID: 10468583).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN T319*

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Transcript NM_000314.8
gDNA chr10:g.87961047_87961049delACTinsTAA
cDNA c.955_957delACTinsTAA
Protein p.T319*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87961047_87961049delACTinsTAA c.955_957delACTinsTAA p.T319* RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87961047_87961049delACTinsTAA c.955_957delACTinsTAA p.T319* RefSeq GRCh38/hg38
NM_000314 chr10:g.87961047_87961049delACTinsTAA c.955_957delACTinsTAA p.T319* RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
PTEN T319* loss of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor