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| Gene | PTEN |
| Variant | D326N |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN D326N lies within the C2 tensin-type domain of the Pten protein (UniProt.org). D326N demonstrates Pten protein stability similar to wild-type protein in one study (PMID: 32366478), and reduced protein stability in other studies (PMID: 32350270, PMID: 25527629), and fails to rescue spheroid formation in cell culture (PMID: 32366478), and results in moderately decreased phosphatase activity in yeast (PMID: 21828076). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN D326N |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87961068G>A |
| cDNA | c.976G>A |
| Protein | p.D326N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |