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| Gene | PTEN |
| Variant | Y27N |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN Y27N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y27N results in reduced Pten phosphatase activity in a yeast assay (PMID: 29706350) and failure to suppress Akt signaling in cultured cells (PMID: 32704382). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN Y27N |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87864548T>A |
| cDNA | c.79T>A |
| Protein | p.Y27N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.6 | chr10:g.87864548T>A | c.79T>A | p.Y27N | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87864548T>A | c.79T>A | p.Y27N | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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