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Gene | PTEN |
Variant | Y176C |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN Y176C lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Y176C demonstrates phosphatase activity in yeast and in a Drosophila wing overgrowth assay (PMID: 21828076, PMID: 34492006), protein stability (PMID: 32366478, PMID: 32350270), suppression of Akt phosphorylation, and developmental growth in flies similar to wild-type Pten (PMID: 32350270), however, results in decreased catalytic activity (PMID: 25647146), and loss of the ability to rescue spheroid formation in cell culture (PMID: 32366478), and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN Y176C |
Transcript | NM_000314.8 |
gDNA | chr10:g.87952152A>G |
cDNA | c.527A>G |
Protein | p.Y176C |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87952152A>G | c.527A>G | p.Y176C | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87952152A>G | c.527A>G | p.Y176C | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87952152A>G | c.527A>G | p.Y176C | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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