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Gene PIK3CA
Variant H1047L
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA H1047L is a hotspot mutation that lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). H1047L results in increased phosphorylation of Akt and Mek1/2, growth factor-independent cell survival, and transformation in cell culture (PMID: 26627007, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA H1047L

PIK3CA mutant PIK3CA exon21 PIK3CA H1047X PIK3CA H1047L

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Transcript NM_006218.4
gDNA chr3:g.179234297A>T
cDNA c.3140A>T
Protein p.H1047L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713658 chr3:g.179234297A>T c.3140A>T p.H1047L RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179234297A>T c.3140A>T p.H1047L RefSeq GRCh38/hg38
NM_006218 chr3:g.179234297A>T c.3140A>T p.H1047L RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179234297A>T c.3140A>T p.H1047L RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179234297A>T c.3140A>T p.H1047L RefSeq GRCh38/hg38
XM_011512894 chr3:g.179234297A>T c.3140A>T p.H1047L RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179234297A>T c.3140A>T p.H1047L RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179234297A>T c.3140A>T p.H1047L 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 H1047L gain of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor
PIK3CA H1047L PIK3CA amp