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Gene | PTEN |
Variant | G129R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN G129R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). G129R confers a loss of function to the Pten protein, as demonstrated by loss of phosphatase activity (PMID: 9256433, PMID: 9823298), reduced protein stability and failure to rescue spheroid formation (PMID: 32366478), and is unable to suppress cell proliferation and inhibit cell growth in culture (PMID: 9823298). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN G129R |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933144G>A |
cDNA | c.385G>A |
Protein | p.G129R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87933144G>A | c.385G>A | p.G129R | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933144G>A | c.385G>A | p.G129R | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933144G>A | c.385G>A | p.G129R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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