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 | H61D |
| Impact List | missense |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PTEN H61D lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). H61D results in a loss of Pten phosphatase activity in yeast (PMID: 21828076, PMID: 17942903) and has high protein instability (PMID: 17942903). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN inact mut PTEN H61D |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87925529C>G |
| cDNA | c.181C>G |
| Protein | p.H61D |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.8 | chr10:g.87925529C>G | c.181C>G | p.H61D | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87925529C>G | c.181C>G | p.H61D | RefSeq | GRCh38/hg38 |
| NM_000314.6 | chr10:g.87925529C>G | c.181C>G | p.H61D | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|