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| Gene | PTEN |
| Variant | M134T |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN M134T lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). M134T rescues growth of yeast cells similar to wild-type Pten in culture, but demonstrates reduced lipid phosphatase activity in a yeast assay (PMID: 21828076) and cell culture (PMID: 32150788), and decreased Pten protein expression and stability in cell culture (PMID: 32150788, PMID: 32350270), and results in reduced nuclear localization and increased sumoylation (PMID: 32150788), failure to suppress Akt phosphorylation in cell culture, and impaired developmental growth in flies (PMID: 32350270). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN M134T |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87933160T>C |
| cDNA | c.401T>C |
| Protein | p.M134T |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.6 | chr10:g.87933160T>C | c.401T>C | p.M134T | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87933160T>C | c.401T>C | p.M134T | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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