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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_011512894.2 | 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 |
NM_006218.4 | 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 |
XM_006713658 | 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_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 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|---|---|---|---|---|---|
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 |
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 |
NCT05768139 | Phase Ib/II | Fulvestrant + STX-478 STX-478 | First-in-Human Study of STX-478 as Monotherapy and in Combination With Other Antineoplastic Agents in Participants With Advanced Solid Tumors | Recruiting | USA | ITA | FRA | ESP | 0 |