PTEN D252G
Gene Variant Detail

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Gene PTEN
Variant D252G
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN D252G lies within the C2 tensin-type domain of the Pten protein (UniProt.org). D252G demonstrates reduced lipid phosphatase activity in a yeast assay and in cell culture (PMID: 21828076, PMID: 25527629, PMID: 29373119), decreased Pten protein stability (PMID: 25527629, PMID: 29706633, PMID: 32350270), and results in impaired nuclear localization, and failure to regulate neuronal growth (PMID: 29373119), and loss of ability to suppress Akt phosphorylation in cell culture, and delays developmental growth in flies (PMID: 32350270).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN D252G

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Transcript NM_000314.8
gDNA chr10:g.87957973A>G
cDNA c.755A>G
Protein p.D252G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.8 chr10:g.87957973A>G c.755A>G p.D252G RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87957973A>G c.755A>G p.D252G RefSeq GRCh38/hg38
NM_000314 chr10:g.87957973A>G c.755A>G p.D252G 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References