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Gene PTEN
Variant T319del
Impact List deletion
Protein Effect loss of function
Gene Variant Descriptions PTEN T319del results in the deletion of an amino acid within the C2 tensin-type domain of the Pten protein at amino acid 319 (UniProt.org). T319del confers a loss of function to the Pten protein as demonstrated by increased Pten degradation in cultured cells and decreased phosphatase activity in an in vitro assay (PMID: 10468583).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN T319del

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Transcript NM_000314.8
gDNA chr10:g.87961047_87961049delACT
cDNA c.955_957delACT
Protein p.T319delT
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87961047_87961049delACT c.955_957delACT p.T319delT RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87961047_87961049delACT c.955_957delACT p.T319delT RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87961047_87961049delACT c.955_957delACT p.T319delT RefSeq GRCh38/hg38
NM_001304717.2 chr10:g.87933195_87933197delTTA c.955_957delTTA p.L319delL RefSeq GRCh38/hg38
NM_001304717.5 chr10:g.87933195_87933197delTTA c.955_957delTTA p.L319delL RefSeq GRCh38/hg38
NM_001304717 chr10:g.87933195_87933197delTTA c.955_957delTTA p.L319delL 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References