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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

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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_000314.8 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 chr10:g.87952152A>G c.527A>G p.Y176C RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References