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Gene | PTEN |
Variant | K62R |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN K62R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). K62R confers a loss of function to the Pten protein, as demonstrated by reduced ATP-binding, increased cell proliferation, and cell transformation in culture (PMID: 19457929). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN K62R |
Transcript | NM_000314.8 |
gDNA | chr10:g.87925533A>G |
cDNA | c.185A>G |
Protein | p.K62R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87925533A>G | c.185A>G | p.K62R | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87925533A>G | c.185A>G | p.K62R | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87925533A>G | c.185A>G | p.K62R | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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