Gene Variant Detail

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Gene PIK3CA
Variant G1049R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA G1049R lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). G1049R results in increased phosphorylation of Akt and Mek1/2, growth factor-independent cell survival, and transforming in cell culture (PMID: 26627007, PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA G1049R

PIK3CA mutant PIK3CA exon21 PIK3CA G1049R

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Transcript NM_006218.4
gDNA chr3:g.179234302G>C
cDNA c.3145G>C
Protein p.G1049R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006218.4 chr3:g.179234302G>C c.3145G>C p.G1049R RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179234302G>C c.3145G>C p.G1049R RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179234302G>C c.3145G>C p.G1049R RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179234302G>C c.3145G>C p.G1049R RefSeq GRCh38/hg38
XM_006713658 chr3:g.179234302G>C c.3145G>C p.G1049R RefSeq GRCh38/hg38
NM_006218 chr3:g.179234302G>C c.3145G>C p.G1049R RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179234302G>C c.3145G>C p.G1049R RefSeq GRCh38/hg38
XM_011512894 chr3:g.179234302G>C c.3145G>C p.G1049R RefSeq GRCh38/hg38

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  • 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")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA G1049R breast cancer sensitive Dactolisib Preclinical Actionable In a preclinical study, BEZ235 inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA G1049R in culture (PMID: 26627007). 26627007
PIK3CA G1049R breast cancer sensitive Alpelisib Preclinical Actionable In a preclinical study, Alpelisib (BYL719) inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA G1049R in culture (PMID: 26627007). 26627007
PIK3CA G1049R breast cancer sensitive MK2206 Preclinical Actionable In a preclinical study, MK2206 inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA G1049R in culture (PMID: 26627007). 26627007
PIK3CA G1049R breast cancer sensitive Lapatinib Preclinical Actionable In a preclinical study, Tykerb (lapatinib) inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA G1049R in culture (PMID: 26627007). 26627007
PIK3CA G1049R breast cancer sensitive Neratinib Preclinical Actionable In a preclinical study, Nerlynx (neratinib) inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA G1049R in culture (PMID: 26627007). 26627007
PIK3CA G1049R breast cancer sensitive Trametinib Preclinical Actionable In a preclinical study, Mekinist (trametinib) inhibited survival of transformed breast epithelial cell lines overexpressing PIK3CA G1049R in culture (PMID: 26627007). 26627007
PIK3CA G1049R Advanced Solid Tumor sensitive Trametinib Preclinical Actionable In a preclinical study, Mekinist (trametinib) inhibited survival of transformed cell lines overexpressing PIK3CA G1049R in culture (PMID: 26627007). 26627007
PIK3CA G1049R breast cancer resistant Buparlisib Preclinical - Cell culture Actionable In a preclinical study, breast cancer cells expressing PIK3CA G1049R demonstrated resistance to treatment with Buparlisib (BKM120) in culture (PMID: 29636477). 29636477
PIK3CA G1049R lung squamous cell carcinoma no benefit Taselisib Case Reports/Case Series Actionable In a Phase I (SWOG S1400B) trial, Taselisib (GDC-0032) treatment did not meet its primary endpoint for response rate in patients with lung squamous cell carcinoma harboring PIK3CA mutations, resulting in no response in a patient harboring PIK3CA G1049R (PMID: 31158500; NCT02785913). 31158500