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| Gene | PTEN |
| Variant | N262S |
| Impact List | missense |
| Protein Effect | no effect |
| Gene Variant Descriptions | PTEN N262S lies within the C2 tensin-type domain of the Pten protein (UniProt.org). N262S demonstrates ability to rescue spheroid formation (PMID: 32366478), Pten protein stability (PMID: 32350270, PMID: 32366478), and Akt phosphorylation similar to wild-type Pten in cell culture, and results in normal developmental growth in flies (PMID: 32350270). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN N262S |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87958003A>G |
| cDNA | c.785A>G |
| Protein | p.N262S |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |