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 | L325F |
| Impact List | missense |
| Protein Effect | loss of function - predicted |
| Gene Variant Descriptions | PTEN L325F lies within the C2 tensin-type domain of the Pten protein (UniProt.org). L325F results in a loss of phosphatase activity through failure to inhibit Akt phosphorylation in cell culture (PMID: 19329485), 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 L325F |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87961065C>T |
| cDNA | c.973C>T |
| Protein | p.L325F |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_001304717.5 | chr10:g.87933213_87933215delCTAinsTTT | c.973_975delCTAinsTTT | p.L325F | RefSeq | GRCh38/hg38 |
| NM_000314.6 | chr10:g.87961065C>T | c.973C>T | p.L325F | RefSeq | GRCh38/hg38 |
| NM_001304717.2 | chr10:g.87933213_87933215delCTAinsTTT | c.973_975delCTAinsTTT | p.L325F | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87961065C>T | c.973C>T | p.L325F | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87961065C>T | c.973C>T | p.L325F | RefSeq | GRCh38/hg38 |
| NM_001304717 | chr10:g.87933213_87933215delCTAinsTTT | c.973_975delCTAinsTTT | p.L325F | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|