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Gene | PTEN |
Variant | Q171R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN Q171R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). Q171R confers a loss of function on Pten as demonstrated by altered cell morphology and cytoskeletal organization, decreased ability to suppress proliferation and migration, increased phosphorylation of Akt, and decreased apoptotic activity upon induction in cultured cells (PMID: 34943931). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN Q171R |
Transcript | NM_000314.8 |
gDNA | chr10:g.87952137A>G |
cDNA | c.512A>G |
Protein | p.Q171R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.8 | chr10:g.87952137A>G | c.512A>G | p.Q171R | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87952137A>G | c.512A>G | p.Q171R | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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