Gene Variant Detail

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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_006218.3
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_006713658.4 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
NM_006218 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
XM_006713658 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

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA H1047L breast cancer sensitive Dactolisib Preclinical Actionable In a preclinical study, BEZ235 inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA H1047L in culture (PMID: 26627007). 26627007
PIK3CA H1047L breast cancer sensitive Alpelisib Preclinical - Cell culture Actionable In a preclinical study, Alpelisib (BYL719) inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA H1047L in culture (PMID: 26627007). 26627007
PIK3CA H1047L breast cancer sensitive MK2206 Preclinical Actionable In a preclinical study, MK2206 inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA H1047L in culture (PMID: 26627007). 26627007
PIK3CA H1047L breast cancer sensitive Lapatinib Preclinical Actionable In a preclinical study, Tykerb (lapatinib) inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA H1047L in culture (PMID: 26627007). 26627007
PIK3CA H1047L breast cancer sensitive Neratinib Preclinical Actionable In a preclinical study, Nerlynx (neratinib) inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA H1047L in culture (PMID: 26627007). 26627007
PIK3CA H1047L breast cancer sensitive Trametinib Preclinical Actionable In a preclinical study, Mekinist (trametinib) inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA H1047L in culture (PMID: 26627007). 26627007
PIK3CA H1047L oral squamous cell carcinoma sensitive Palbociclib + PF-04691502 Preclinical - Cell line xenograft Actionable In a preclinical study, oral squamous cell carcinoma cells harboring PIK3CA H1047L demonstrated increased sensitivity to Ibrance (palbociclib) when combined with PF-04691502, and the combination treatment inhibited proliferation in cell culture, and reduced tumor growth in a cell line xenograft model (PMID: 31516747). 31516747
PIK3CA H1047L oral squamous cell carcinoma predicted - sensitive PF-04691502 Preclinical - Cell line xenograft Actionable In a preclinical study, PF-04691502 treatment inhibited tumor growth in a cell line xenograft model of oral squamous cell carcinoma harboring PIK3CA H1047L (PMID: 31516747). 31516747
PIK3CA H1047L oral squamous cell carcinoma decreased response Palbociclib Preclinical - Cell line xenograft Actionable In a preclinical study, treatment with Ibrance (palbociclib) resulted in sustained tumor growth, but increasing tumor volume over time with treatment in oral squamous cell carcinoma cell line xenograft models harboring PIK3CA H1047L (PMID: 31516747). 31516747