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| Gene | PTEN |
| Variant | D268E |
| Impact List | missense |
| Protein Effect | no effect |
| Gene Variant Descriptions | PTEN D268E lies within the C2 tensin-type domain of the Pten protein (UniProt.org). D268E demonstrates Pten protein stability (PMID: 32350270, PMID: 32366478), ability to rescue spheroid formation (PMID: 32366478), and suppression of Akt phosphorylation similar to wild-type Pten in cell culture, and leads to normal developmental growth in flies (PMID: 32350270). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN D268E |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87960896C>G |
| cDNA | c.804C>G |
| Protein | p.D268E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.6 | chr10:g.87960896C>G | c.804C>G | p.D268E | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87960896C>G | c.804C>G | p.D268E | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87960896C>G | c.804C>G | p.D268E | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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