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Gene PTEN
Variant K13E
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN K13E lies within the lipid binding domain of the Pten protein (PMID: 25263454). K13E has phosphatase activity similar to wild-type Pten, but fails to translocate into the nucleus, and is unable to inhibit Akt activation and cell proliferation in culture (PMID: 14711368, PMID: 17213812) and therefore, confers a loss of function to the Pten protein.
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN K13E

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Transcript NM_000314.8
gDNA chr10:g.87864506A>G
cDNA c.37A>G
Protein p.K13E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87864506A>G c.37A>G p.K13E RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87864506A>G c.37A>G p.K13E RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87864506A>G c.37A>G p.K13E 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 )
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  • 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