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Gene PTEN
Variant G127V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions PTEN G127V lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G127V demonstrates a gene expression profile that correlates with a PTEN loss-of-function variant (PMID: 27147599), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN G127V

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Transcript NM_000314.8
gDNA chr10:g.87933139G>T
cDNA c.380G>T
Protein p.G127V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314.6 chr10:g.87933139G>T c.380G>T p.G127V RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933139G>T c.380G>T p.G127V RefSeq GRCh38/hg38
NM_000314 chr10:g.87933139G>T c.380G>T p.G127V 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

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