Gene Variant Detail

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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_000314.6
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

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

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