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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 |
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 | 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_000314.6 | chr10:g.87933136C>A | c.377C>A | 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_001304717.5 | chr10:g.87864327_87864328delCGinsAC | c.377_378delCGinsAC | p.A126D | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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