Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | PTEN |
Variant | D92N |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | PTEN D92N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). D92N demonstrates Pten protein stability in cell culture (PMID: 32366478) and phosphatase activity in a yeast assay (PMID: 21828076) similar to wild-type Pten, however, in a Drosophila wing overgrowth assay demonstrates loss of Pten activity (PMID: 34492006), and results in a partial loss of ability to rescue spheroid formation in cell culture (PMID: 32366478), and therefore, its effect on Pten protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN D92N |
Transcript | NM_000314.8 |
gDNA | chr10:g.87933033G>A |
cDNA | c.274G>A |
Protein | p.D92N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87933033G>A | c.274G>A | p.D92N | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87933033G>A | c.274G>A | p.D92N | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.87933033G>A | c.274G>A | p.D92N | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|