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Gene | PTEN |
Variant | I33S |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | PTEN I33S lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). I33S results in reduced Pten protein expression and phosphatase activity in a yeast assay (PMID: 29706350, PMID: 17942903), and reduced protein stability (PMID: 17942903) and decreased nuclear localization in cell culture (PMID: 25875300). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN I33S |
Transcript | NM_000314.8 |
gDNA | chr10:g.87894043T>G |
cDNA | c.98T>G |
Protein | p.I33S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87894043T>G | c.98T>G | p.I33S | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87894043T>G | c.98T>G | p.I33S | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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