Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
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 |
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_011512894 | 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_011512894.2 | 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 |
XM_006713658 | 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 |
NM_006218 | 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 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PIK3CA H1047L PIK3CA amp | head and neck squamous cell carcinoma | sensitive | Alpelisib + Tipifarnib | Preclinical - Pdx | Actionable | In a preclinical study, the combination of Piqray (alpelisib) and Zarnestra (tipifarnib) inhibited tumor growth in a patient-derived xenograft (PDX) model of PIK3CA-amplified head and neck squamous cell carcinoma harboring PIK3CA H1047L (PMID: 37339176). | 37339176 |