Gene Variant Detail

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Gene PIK3CA
Variant H1047R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA H1047R is a hotspot mutation that lies within the kinase domain of the Pik3ca protein (UniProt.org). H1047R 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 H1047R

PIK3CA mutant PIK3CA exon21 PIK3CA H1047X PIK3CA H1047R

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Transcript NM_006218.4
gDNA chr3:g.179234297A>G
cDNA c.3140A>G
Protein p.H1047R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713658 chr3:g.179234297A>G c.3140A>G p.H1047R RefSeq GRCh38/hg38
NM_006218 chr3:g.179234297A>G c.3140A>G p.H1047R RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179234297A>G c.3140A>G p.H1047R RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179234297A>G c.3140A>G p.H1047R RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179234297A>G c.3140A>G p.H1047R RefSeq GRCh38/hg38
XM_011512894 chr3:g.179234297A>G c.3140A>G p.H1047R RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179234297A>G c.3140A>G p.H1047R RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179234297A>G c.3140A>G p.H1047R 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 H1047R gain of function Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor
PIK3CA P539R PIK3CA H1047R
PIK3CA K111R PIK3CA H1047R PTEN wild-type
BRAF V600E PIK3CA H1047R
BRAF V600E PIK3CA H1047R TP53 wild-type
PIK3CA H1047R PTEN E307K
PIK3CA H1047R PTEN loss
PIK3CA H1047R TP53 S90fs
NRAS mut PIK3CA H1047R
PIK3CA E726K PIK3CA H1047R
PIK3CA E453Q PIK3CA H1047R
HRAS mut PIK3CA H1047R
PIK3CA Q1033R PIK3CA H1047R
BRAF V600X PIK3CA H1047R PTEN Y68fs
PIK3CA E81K PIK3CA E563K PIK3CA H1047R
BRAF V600E PIK3CA H1047R PTEN Y68fs
HRAS G13R PIK3CA H1047R
NRAS G13R PIK3CA H1047R
PIK3CA R108H PIK3CA H1047R
ALK F1174L PIK3CA H1047R
PIK3CA D350N PIK3CA H1047R
PIK3CA K111R PIK3CA H1047R
PIK3CA W780R PIK3CA H1047R
PIK3CA Q859H PIK3CA H1047R
PIK3CA Q859K PIK3CA H1047R
PIK3CA I817F PIK3CA H1047R
PIK3CA P539R PIK3CA H1047R PTEN del
PIK3CA E545K PIK3CA H1047R
PIK3CA E453K PIK3CA H1047R