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| Gene | PTEN |
| Variant | P95R |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN P95R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). P95R confers a loss of function to Pten as demonstrated by altered subcellular localization (PMID: 36543932), and reduced phosphatase activity in a yeast assay (PMID: 29706350, PMID: 36543932) and in culture (PMID: 36543932). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN P95R |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87933043C>G |
| cDNA | c.284C>G |
| Protein | p.P95R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.8 | chr10:g.87933043C>G | c.284C>G | p.P95R | RefSeq | GRCh38/hg38 |
| NM_000314.6 | chr10:g.87933043C>G | c.284C>G | p.P95R | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87933043C>G | c.284C>G | p.P95R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| PTEN P95R | loss of function | Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor PI3K Inhibitor (Pan) PIK3CB inhibitor |