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| Gene | PIK3CA |
| Variant | H1047K |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PIK3CA H1047K is a hotspot mutation that lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1047K has been identified in the scientific literature (PMID: 27374081, PMID: 26783290, PMID: 34159748), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Jul 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
PIK3CA mutant PIK3CA exon21 PIK3CA H1047X PIK3CA H1047K |
| Transcript | NM_006218.4 |
| gDNA | chr3:g.179234296_179234298delCATinsAAG |
| cDNA | c.3139_3141delCATinsAAG |
| Protein | p.H1047K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006218 | chr3:g.179234296_179234298delCATinsAAG | c.3139_3141delCATinsAAG | p.H1047K | RefSeq | GRCh38/hg38 |
| XM_006713658 | chr3:g.179234296_179234298delCATinsAAG | c.3139_3141delCATinsAAG | p.H1047K | RefSeq | GRCh38/hg38 |
| XM_006713658.4 | chr3:g.179234296_179234298delCATinsAAG | c.3139_3141delCATinsAAG | p.H1047K | RefSeq | GRCh38/hg38 |
| NM_006218.4 | chr3:g.179234296_179234298delCATinsAAG | c.3139_3141delCATinsAAG | p.H1047K | RefSeq | GRCh38/hg38 |
| XM_011512894.2 | chr3:g.179234296_179234298delCATinsAAG | c.3139_3141delCATinsAAG | p.H1047K | RefSeq | GRCh38/hg38 |
| NM_006218.3 | chr3:g.179234296_179234298delCATinsAAG | c.3139_3141delCATinsAAG | p.H1047K | RefSeq | GRCh38/hg38 |
| XM_006713658.5 | chr3:g.179234296_179234298delCATinsAAG | c.3139_3141delCATinsAAG | p.H1047K | RefSeq | GRCh38/hg38 |
| XM_011512894 | chr3:g.179234296_179234298delCATinsAAG | c.3139_3141delCATinsAAG | p.H1047K | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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