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 | E18G |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PTEN E18G lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). E18G results in mRNA and protein expression similar to wild-type Pten in culture but leads to a loss of phosphatase activity as indicated by loss of Akt phosphorylation and reduced expression in a patient sample in the context of a C105F mutation (PMID: 36591942), but has not been individually characterized, and therefore, its effect on protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN E18G |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87864522A>G |
| cDNA | c.53A>G |
| Protein | p.E18G |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.8 | chr10:g.87864522A>G | c.53A>G | p.E18G | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|