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| Gene | PTEN |
| Variant | D301N |
| Impact List | missense |
| Protein Effect | no effect - predicted |
| Gene Variant Descriptions | PTEN D301N lies within the C2 tensin-type domain of the Pten protein (UniProt.org). D301N demonstrates inhibition of Akt phosphorylation similar to wild-type Pten in cell culture (PMID: 19329485), and therefore, is predicted to have no effect on Pten protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN D301N |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87960993G>A |
| cDNA | c.901G>A |
| Protein | p.D301N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.8 | chr10:g.87960993G>A | c.901G>A | p.D301N | RefSeq | GRCh38/hg38 |
| NM_000314.6 | chr10:g.87960993G>A | c.901G>A | p.D301N | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87960993G>A | c.901G>A | p.D301N | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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