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
XM_006713658.5 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_011512894.2 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_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

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Protein Effect Treatment Approaches
PIK3CA H1047X unknown Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor
BRAF V600X PIK3CA H1047X