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| Gene | PTEN |
| Variant | G132D |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN G132D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G132D demonstrates Pten protein stability similar to wild-type in one study (PMID: 32366478) and reduced protein stability in others (PMID: 32350270, PMID: 37907589), however, fails to suppress Akt phosphorylation (PMID: 32350270, PMID: 37907589), does not rescue spheroid formation in PTEN null cells in culture (PMID: 32366478), increases proliferation rate, and decreases apoptosis in culture (PMID: 37907589). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN G132D |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87933154G>A |
| cDNA | c.395G>A |
| Protein | p.G132D |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.6 | chr10:g.87933154G>A | c.395G>A | p.G132D | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87933154G>A | c.395G>A | p.G132D | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87933154G>A | c.395G>A | p.G132D | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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