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| Gene | PTEN |
| Variant | V343E |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN V343E lies within the C2 tensin-type domain of the Pten protein (UniProt.org). V343E confers a loss of function to the Pten protein as demonstrated by loss of phosphatase activity (PMID: 10866302) and the inability to bind the Pten interacting protein, PICT-1 (PMID: 15355975). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN V343E |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87965288T>A |
| cDNA | c.1028T>A |
| Protein | p.V343E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.6 | chr10:g.87965288T>A | c.1028T>A | p.V343E | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87965288T>A | c.1028T>A | p.V343E | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87965288T>A | c.1028T>A | p.V343E | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|