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PIK3CA H1047X - Gene Variant Detail

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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

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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
NM_006218.3 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
NM_006218.4 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
XM_006713658 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_011512894.2 chr3:g.179234296_179234298 c.3139_3141 p.H1047 RefSeq GRCh38/hg38

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
BRAF V600X PIK3CA H1047X ovarian carcinoma predicted - sensitive Bevacizumab + Pegylated liposomal doxorubicin + Temsirolimus Case Reports/Case Series Actionable In a clinical study, the combination of Torisel (temsirolimus) plus Avastin (bevacizumab) and Doxil (pegylated liposomal-doxorubicin) resulted in a partial response in a patient with ovarian clear cell carcinoma harboring PIK3CA H1047 and BRAF V600 mutations (PMID: 21216929). 21216929