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| Gene | PTEN |
| Variant | T277A |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN T277A lies within the C2 tensin-type domain of the Pten protein (UniProt.org). T277A results in similar phosphatase activity to wild-type Pten in an in vitro assay (PMID: 28263967), and in cultured cells and a yeast assay (PMID: 36543932) but results in reduced protein stability (PMID: 28263967, PMID: 36543932), altered subcellular localization (PMID: 36543932), decreased suppression of Akt phosphorylation and Pip3 levels, increased cell proliferation and migration, and inhibition of Pten membrane and nuclear localization in cell culture (PMID: 28263967). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN T277A |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87960921A>G |
| cDNA | c.829A>G |
| Protein | p.T277A |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.6 | chr10:g.87960921A>G | c.829A>G | p.T277A | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87960921A>G | c.829A>G | p.T277A | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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