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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 |
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 | 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_000314.6 | 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 |
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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
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 |
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 |