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 | M134R |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | PTEN M134R lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). M134R results in reduced phosphatase activity in a yeast assay (PMID: 29706350), decreased protein stability, and loss of Pten expression in culture (PMID: 37907589), 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 M134R |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87933160T>G |
| cDNA | c.401T>G |
| Protein | p.M134R |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.6 | chr10:g.87933160T>G | c.401T>G | p.M134R | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87933160T>G | c.401T>G | p.M134R | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|