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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 (PMID: 37935253), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Jun 2025). |
| 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_001304717.5 | chr10:g.87864326G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87933135G>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_000314.8 | 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_001304717.2 | chr10:g.87864326G>A | c.376G>A | p.A126T | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| PTEN A126T | unknown |