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 | C71Y |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN C71Y lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). C71Y confers a loss of function to Pten as demonstrated by loss of phosphatase activity in in vitro assays (PMID: 11051241, PMID: 10866302). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN C71Y |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87931048G>A |
| cDNA | c.212G>A |
| Protein | p.C71Y |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.6 | chr10:g.87931048G>A | c.212G>A | p.C71Y | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87931048G>A | c.212G>A | p.C71Y | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87931048G>A | c.212G>A | p.C71Y | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|