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| Gene | PTEN |
| Variant | P339L |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | PTEN P339L lies within the C2 tensin-type domain of the Pten protein (UniProt.org). P339L fails to suppress E2f1-mediated transcription in cultured cells (PMID: 29108454), and therefore, is predicted to lead to a loss of Pten protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN P339L |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87961108C>T |
| cDNA | c.1016C>T |
| Protein | p.P339L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.6 | chr10:g.87961108C>T | c.1016C>T | p.P339L | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87961108C>T | c.1016C>T | p.P339L | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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