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| Gene | PTEN |
| Variant | L295V |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PTEN L295V lies within the C2 tensin-type domain of the Pten protein (UniProt.org). L295V demonstrates Pten protein stability and suppression of Akt phosphorylation similar to wild-type Pten in cell culture, however, leads to impaired developmental growth in flies (PMID: 32350270), and therefore, its effect on Pten protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN L295V |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87960975C>G |
| cDNA | c.883C>G |
| Protein | p.L295V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |