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 | N323fs |
Impact List | frameshift |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN N323fs results in a change in the amino acid sequence of the Pten protein beginning at aa 323 of 403, likely resulting in premature truncation of the functional protein (UniProt.org). N323fs has not been characterized, however, due to the effects of other truncation mutations downstream of N323 (PMID: 10468583), is predicted to lead to a loss of Pten protein function. |
Associated Drug Resistance | |
Category Variants Paths |
PTEN mutant PTEN inact mut PTEN N323fs |
Transcript | NM_000314.8 |
gDNA | chr10:g.(87961058_87961059) |
cDNA | c.(967_966) |
Protein | p.N323fs |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314 | chr10:g.87961054_87961055insT | c.962_963insT | p.N323fs*2 | RefSeq | GRCh38/hg38 |
NM_000314.6 | chr10:g.(87961058_87961059) | c.(967_966) | p.N323fs | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.(87961058_87961059) | c.(967_966) | p.N323fs | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PTEN N323fs | castration-resistant prostate carcinoma | predicted - sensitive | Everolimus | Case Reports/Case Series | Actionable | In a clinical case study, Afinitor (everolimus) treatment resulted in stable disease for eight months in a patient with castration-resistant prostate cancer harboring PTEN N323fs*21 who had previously progressed on several lines of therapy (PMID: 32399016). | 32399016 |