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Gene | PTEN |
Variant | H61D |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN H61D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H61D results in a loss of Pten phosphatase activity in yeast (PMID: 21828076, PMID: 17942903) and has high protein instability (PMID: 17942903). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN H61D |
Transcript | NM_000314.8 |
gDNA | chr10:g.87925529C>G |
cDNA | c.181C>G |
Protein | p.H61D |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87925529C>G | c.181C>G | p.H61D | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87925529C>G | c.181C>G | p.H61D | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87925529C>G | c.181C>G | p.H61D | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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