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Gene | PTEN |
Variant | A126T |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN A126T lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). A126T is predicted to lead to a collapsed P loop formation incapable of interacting with the WPD loop resulting in dehydration of the catalytic site (Cancer Res (2023) 83 (7_Supplement): 3845), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Oct 2023). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN A126T |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933135G>A |
cDNA | c.376G>A |
Protein | p.A126T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87933135G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
NM_001304717.5 | chr10:g.87864326G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
NM_001304717.2 | chr10:g.87864326G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933135G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
NM_001304717 | chr10:g.87864326G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933135G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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