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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_000314.8 | chr10:g.87960921A>G | c.829A>G | p.T277A | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87960921A>G | c.829A>G | p.T277A | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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