PTEN A126G
Gene Variant Detail

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Gene PTEN
Variant A126G
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions PTEN A126G lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A126G confers a loss of function to the Pten protein as demonstrated by a shift in substrate specificity of Pten from 3- to 5-phosphatase (PMID: 29987362), an inability to regulate Pi3k/Akt signaling, and increased cell proliferation and transformation in culture (PMID: 26504226).
Associated Drug Resistance
Category Variants Paths

PTEN mutant PTEN inact mut PTEN A126G

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Transcript NM_000314.8
gDNA chr10:g.87933136C>G
cDNA c.377C>G
Protein p.A126G
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001304717.5 chr10:g.87864327C>G c.377C>G p.A126G RefSeq GRCh38/hg38
NM_001304717.2 chr10:g.87864327C>G c.377C>G p.A126G RefSeq GRCh38/hg38
NM_000314.6 chr10:g.87933136C>G c.377C>G p.A126G RefSeq GRCh38/hg38
NM_001304717 chr10:g.87864327C>G c.377C>G p.A126G RefSeq GRCh38/hg38
NM_000314.8 chr10:g.87933136C>G c.377C>G p.A126G RefSeq GRCh38/hg38
NM_000314 chr10:g.87933136C>G c.377C>G p.A126G 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
PTEN A126G prostate cancer sensitive Alpelisib Preclinical - Cell culture Actionable In a preclinical study, Alpelisib (BYL719) inhibited Akt signaling and cell migration in prostate cancer cells expressing PTEN A126G in culture (PMID: 26504226). 26504226
PTEN A126G prostate cancer sensitive AZD6482 Preclinical Actionable In a preclinical study, AZD6482 inhibited Akt signaling and cell migration in prostate cancer cell lines overexpressing PTEN A126G (PMID: 26504226). 26504226