PTEN T319del
Gene Variant Detail

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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 colony growth, Pten degradation, and AKT phosphorylation 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_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_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_001304717 chr10:g.87933195_87933197delTTA c.955_957delTTA p.L319delL RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87961047_87961049delACT c.955_957delACT p.T319delT RefSeq GRCh38/hg38

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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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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References