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| Gene | PIK3CA |
| Variant | H1047X |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PIK3CA H1047X indicates any Pik3ca missense mutation that results in the replacement of the histidine (H) at amino acid 1047 by a different amino acid. PIK3CA H1047X mutations are hotspot mutations that may result in increased Pik3ca kinase activity and cell transformation in culture (PMID: 15930273). |
| Associated Drug Resistance | |
| Category Variants Paths |
PIK3CA mutant PIK3CA exon21 PIK3CA H1047X |
| Transcript | NM_006218.4 |
| gDNA | chr3:g.179234296_179234298 |
| cDNA | c.3139_3141 |
| Protein | p.H1047 |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006713658 | chr3:g.179234296_179234298 | c.3139_3141 | p.H1047 | RefSeq | GRCh38/hg38 |
| NM_006218 | chr3:g.179234296_179234298 | c.3139_3141 | p.H1047 | RefSeq | GRCh38/hg38 |
| XM_011512894 | chr3:g.179234296_179234298 | c.3139_3141 | p.H1047 | RefSeq | GRCh38/hg38 |
| XM_006713658.4 | chr3:g.179234296_179234298 | c.3139_3141 | p.H1047 | RefSeq | GRCh38/hg38 |
| NM_006218.4 | chr3:g.179234296_179234298 | c.3139_3141 | p.H1047 | RefSeq | GRCh38/hg38 |
| XM_011512894.2 | chr3:g.179234296_179234298 | c.3139_3141 | p.H1047 | RefSeq | GRCh38/hg38 |
| NM_006218.3 | chr3:g.179234296_179234298 | c.3139_3141 | p.H1047 | RefSeq | GRCh38/hg38 |
| XM_006713658.5 | chr3:g.179234296_179234298 | c.3139_3141 | p.H1047 | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
|---|---|---|---|---|---|---|
| NCT04586335 | Phase I | CYH33 + Olaparib | Study of CYH33 in Combination With Olaparib an Oral PARP Inhibitor in Patients With Advanced Solid Tumors. | Terminated | USA | AUS | 1 |
| NCT03842228 | Phase I | Copanlisib + Durvalumab + Olaparib | Testing the Combination of the Anti-cancer Drugs Copanlisib, Olaparib, and MEDI4736 (Durvalumab) in Patients With Advanced Solid Tumors With Selected Mutations | Active, not recruiting | USA | 0 |