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 | M198I |
| Impact List | missense |
| Protein Effect | no effect |
| Gene Variant Descriptions | PTEN M198I lies within the C2 tensin-type domain of the Pten protein (UniProt.org). M198I results in Akt phosphorylation (PMID: 32350270), and demonstrates Pten protein stability and the ability to rescue spheroid formation similar to wild-type Pten in cell culture (PMID: 32366478, PMID: 32350270). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN M198I |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87952219G>C |
| cDNA | c.594G>C |
| Protein | p.M198I |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314 | chr10:g.87952219G>C | c.594G>C | p.M198I | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87952219G>C | c.594G>C | p.M198I | RefSeq | GRCh38/hg38 |
| NM_000314.6 | chr10:g.87952219G>C | c.594G>C | p.M198I | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|