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Gene PTEN
Variant G127R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN G127R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G127R demonstrates Pten protein stability similar to wild-type protein in one study (PMID: 32366478) and reduced protein stability in another study (PMID: 32350270), however, results in a loss of ability to rescue spheroid formation (PMID: 32366478), and fails to suppress Akt phosphorylation in cell culture, and delays development in flies (PMID: 32350270), increased transformation ability in two different cell lines (PMID: 29533785), and results in a gene expression profile similar to G129E loss of function mutation (PMID: 27147599).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN G127R

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Transcript NM_000314.8
gDNA chr10:g.87933138G>A
cDNA c.379G>A
Protein p.G127R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87933138G>A c.379G>A p.G127R RefSeq GRCh38/hg38
NM_000314 chr10:g.87933138G>A c.379G>A p.G127R RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933138G>A c.379G>A p.G127R 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