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 | P96L |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PTEN P96L lies within the phosphatase tensin-type domain of the Pten protein (UniProt.org). P96L has been identified in sequencing studies (PMID: 18772396, PMID: 33294271), but has not been biochemically characterized and therefore, its effect on Pten protein function is unknown (PubMed, Nov 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
PTEN mutant PTEN P96L |
| Transcript | NM_000314.8 |
| gDNA | chr10:g.87933046C>T |
| cDNA | c.287C>T |
| Protein | p.P96L |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_000314.6 | chr10:g.87933046C>T | c.287C>T | p.P96L | RefSeq | GRCh38/hg38 |
| NM_000314 | chr10:g.87933046C>T | c.287C>T | p.P96L | RefSeq | GRCh38/hg38 |
| NM_000314.8 | chr10:g.87933046C>T | c.287C>T | p.P96L | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|