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| Gene | PTEN |
| Variant | Y46C |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PTEN Y46C lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y46C has been identified in sequencing studies (PMID: 20530683, PMID: 28683746), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN Y46C |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87894082A>G |
| cDNA | c.137A>G |
| Protein | p.Y46C |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.6 | chr10:g.87894082A>G | c.137A>G | p.Y46C | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87894082A>G | c.137A>G | p.Y46C | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87894082A>G | c.137A>G | p.Y46C | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|