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Gene | PTEN |
Variant | G20E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN G20E lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G20E retains some, if not all, phosphatase activity compared to wild-type Pten (PMID: 10866302, PMID: 25263454, PMID: 17213812), however, G20E results in reduced membrane localization of the Pten protein due to impaired binding with membrane lipids, and subsequently, is unable to prevent Akt signaling, cell proliferation (PMID: 17213812), and cell migration and therefore, confers a loss of function to the Pten protein (PMID: 25263454). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN G20E |
Transcript | NM_000314.8 |
gDNA | chr10:g.87864528G>A |
cDNA | c.59G>A |
Protein | p.G20E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87864528G>A | c.59G>A | p.G20E | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87864528G>A | c.59G>A | p.G20E | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87864528G>A | c.59G>A | p.G20E | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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