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Gene PTEN
Variant G129R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN G129R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G129R confers a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity (PMID: 9256433, PMID: 9823298), reduced protein stability and failure to rescue spheroid formation (PMID: 32366478), and is unable to suppress cell proliferation and inhibit cell growth in culture (PMID: 9823298).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN G129R

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Transcript NM_000314.8
gDNA chr10:g.87933144G>A
cDNA c.385G>A
Protein p.G129R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000314 chr10:g.87933144G>A c.385G>A p.G129R RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933144G>A c.385G>A p.G129R RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933144G>A c.385G>A p.G129R 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.
  • Click on any column header arrows to sort by that column
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PTEN G129R ovarian mucinous neoplasm decreased response KX2-391 Preclinical Actionable In a preclincal study, mucinous ovarian carcinoma cell lines over-expressing PTEN G129R were less sensitive to KX2-391 induced growth inhibition in culture and tumor suppression in xenograft models (PMID: 24100628). 24100628