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Gene PTEN
Variant A126D
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN A126D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A126D demonstrates Pten protein stability similar to wild-type protein (PMID: 32366478, PMID: 32350270), however, results in a loss of phosphatase activity in yeast (PMID: 21828076), loss of ability to rescue spheroid formation (PMID: 32366478), and fails to suppress Akt phosphorylation in cell culture, and delays developmental growth in flies (PMID: 32350270), and is associated with homologous recombination deficiency in a patient sample (PMID: 29246904).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN A126D

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Transcript NM_000314.8
gDNA chr10:g.87933136C>A
cDNA c.377C>A
Protein p.A126D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001304717.5 chr10:g.87864327_87864328delCGinsAC c.377_378delCGinsAC p.A126D RefSeq GRCh38/hg38
NM_001304717.2 chr10:g.87864327_87864328delCGinsAC c.377_378delCGinsAC p.A126D RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933136C>A c.377C>A p.A126D RefSeq GRCh38/hg38
NM_000314 chr10:g.87933136C>A c.377C>A p.A126D RefSeq GRCh38/hg38
NM_001304717 chr10:g.87864327_87864328delCGinsAC c.377_378delCGinsAC p.A126D RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933136C>A c.377C>A p.A126D RefSeq GRCh38/hg38

Filtering

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  • 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