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Gene | PTEN |
Variant | N262S |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | PTEN N262S lies within the C2 tensin-type domain of the Pten protein (UniProt.org). N262S demonstrates ability to rescue spheroid formation (PMID: 32366478), Pten protein stability (PMID: 32350270, PMID: 32366478), and Akt phosphorylation similar to wild-type Pten in cell culture, and results in normal developmental growth in flies (PMID: 32350270). |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN N262S |
Transcript | NM_000314.8 |
gDNA | chr10:g.87958003A>G |
cDNA | c.785A>G |
Protein | p.N262S |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87958003A>G | c.785A>G | p.N262S | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87958003A>G | c.785A>G | p.N262S | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87958003A>G | c.785A>G | p.N262S | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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