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 | S170N |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN S170N lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). S170N confers a loss of function to the Pten protein as demonstrated by loss of phosphatase activity (PMID: 10866302) and increased transformation ability in two different cell lines, as compared to wild-type Pten (PMID: 29533785). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN S170N |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87952134G>A |
| cDNA | c.509G>A |
| Protein | p.S170N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.8 | chr10:g.87952134G>A | c.509G>A | p.S170N | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87952134G>A | c.509G>A | p.S170N | RefSeq | GRCh38/hg38 |
| NM_000314.6 | chr10:g.87952134G>A | c.509G>A | p.S170N | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|