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@jax.org
Gene | PTEN |
Variant | K263* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | PTEN K263* results in a premature truncation of the Pten protein at amino acid 263 of 403 (UniProt.org). K263* results in reduced phosphatase activity in a yeast assay (PMID: 29706350), 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 K263* |
Transcript | NM_000314.8 |
gDNA | chr10:g.87958005A>T |
cDNA | c.787A>T |
Protein | p.K263* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_000314.6 | chr10:g.87958005A>T | c.787A>T | p.K263* | RefSeq | GRCh38/hg38 |
NM_000314 | chr10:g.87958005A>T | c.787A>T | p.K263* | RefSeq | GRCh38/hg38 |
NM_000314.8 | chr10:g.87958005A>T | c.787A>T | p.K263* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PTEN Y174H PTEN K263* | colorectal cancer | predicted - sensitive | Olaparib | Preclinical - Patient cell culture | Actionable | In a preclinical study, Lynparza (olaparib) inhibited cell proliferation in a patient-derived colorectal cancer organoid harboring PTEN Y174H and K263*, along with PIK3CA N1068fs, in culture (PMID: 32376656). | 32376656 |
PTEN Y174H PTEN K263* | colorectal cancer | predicted - sensitive | Rucaparib | Preclinical - Patient cell culture | Actionable | In a preclinical study, Rubraca (rucaparib) inhibited cell proliferation in a patient-derived colorectal cancer organoids harboring PTEN Y174H and K263*, along with PIK3CA N1068fs, in culture (PMID: 32376656). | 32376656 |
PIK3CA N1068Kfs*5 PTEN Y174H PTEN K263* | colorectal cancer | predicted - sensitive | Alpelisib | Preclinical - Patient cell culture | Actionable | In a preclinical study, Piqray (alpelisib) inhibited cell proliferation in a patient-derived colorectal cancer organoid harboring PIK3CA N1068Kfs*5, PTEN Y174H, and PTEN K263* in culture (PMID: 32376656). | 32376656 |
PIK3CA N1068Kfs*5 PTEN Y174H PTEN K263* | colorectal cancer | predicted - sensitive | Taselisib | Preclinical - Patient cell culture | Actionable | In a preclinical study, Taselisib (GDC-0032) inhibited cell proliferation in a patient-derived colorectal cancer organoid harboring PIK3CA N1068Kfs*5, PTEN Y174H, and PTEN K263* in culture (PMID: 32376656). | 32376656 |