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Gene | PTEN |
Variant | D331G |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN D331G lies within the C2 tensin-type domain of the Pten protein (UniProt.org). D331G results in reduced protein stability and decreased phosphatase activity (PMID: 10866302), but demonstrates growth inhibition similar to wild-type Pten in cell culture (PMID: 11156408), and maintains suppression of E2f1-mediated transcripts (PMID: 29108454), and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN D331G |
Transcript | NM_000314.8 |
gDNA | chr10:g.87961084A>G |
cDNA | c.992A>G |
Protein | p.D331G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87961084A>G | c.992A>G | p.D331G | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87961084A>G | c.992A>G | p.D331G | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87961084A>G | c.992A>G | p.D331G | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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