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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, Dec 2024).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA exon21 PIK3CA H1047X PIK3CA H1047K

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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
XM_011512894.2 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
NM_006218 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
XM_006713658 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_006713658.4 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

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF V600E PIK3CA H1047K melanoma sensitive Miransertib + Trametinib Preclinical - Pdx Actionable In a preclinical study, a melanoma patient-derived xenograft (PDX) model harboring BRAF V600E and PIK3CA H1047K was sensitive to the combination treatment of Miransertib (ARQ092) and Mekinist (trametinib), demonstrating a greater inhibition of tumor growth when compared to either agent alone (PMID: 26469692). 26469692