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 | E73K |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | PTEN E73K lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). E73K leads to normal developmental growth in flies, but demonstrates reduced Pten protein stability and results in partial suppression of Akt phosphorylation in cell culture (PMID: 32350270), and therefore is predicted to lead to a loss of Pten protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN E73K |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87931053G>A |
| cDNA | c.217G>A |
| Protein | p.E73K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.8 | chr10:g.87931053G>A | c.217G>A | p.E73K | RefSeq | GRCh38/hg38 |
| NM_000314.6 | chr10:g.87931053G>A | c.217G>A | p.E73K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|