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| Gene | PTEN |
| Variant | V351* |
| Impact List | nonsense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PTEN V351* results in a premature truncation of the Pten protein at amino acid 351 of 403 (UniProt.org). V351* demonstrates phosphatase activity and inhibition of Akt phosphorylation similar to wild-type, but results in decreased Pten protein stability and reduced ability to inhibit transformation in culture (PMID: 10468583), and therefore, its effect on Pten protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN V351* |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87965311_87965312delGTinsTA |
| cDNA | c.1051_1052delGTinsTA |
| Protein | p.V351* |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314 | chr10:g.87965311_87965312delGTinsTA | c.1051_1052delGTinsTA | p.V351* | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87965311_87965312delGTinsTA | c.1051_1052delGTinsTA | p.V351* | RefSeq | GRCh38/hg38 |
| NM_000314.6 | chr10:g.87965311_87965312delGTinsTA | c.1051_1052delGTinsTA | p.V351* | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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