Gene Variant Detail

Contact

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 G118D
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA G118D lies within the region linking the PI3K-ABD and PI3K-RBD domains of the Pik3ca protein (UniProt.org). G118D confers a gain of function on the Pik3ca protein as indicated by enhanced lipid kinase activity in cell culture, increased phosphorylation of Akt in cells derived from Cowden syndrome patients harboring germline mutations (PMID: 22949682, PMID: 23246288), and increased transformation ability in two different cell lines (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA G118D

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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Transcript NM_006218.4
gDNA chr3:g.179199690G>A
cDNA c.353G>A
Protein p.G118D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713658 chr3:g.179199690G>A c.353G>A p.G118D RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179199690G>A c.353G>A p.G118D RefSeq GRCh38/hg38
NM_006218 chr3:g.179199690G>A c.353G>A p.G118D RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179199690G>A c.353G>A p.G118D RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179199690G>A c.353G>A p.G118D RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179199690G>A c.353G>A p.G118D RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179199690G>A c.353G>A p.G118D RefSeq GRCh38/hg38
XM_011512894 chr3:g.179199690G>A c.353G>A p.G118D 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

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA G118D lung non-small cell carcinoma sensitive LY3023414 Preclinical - Cell line xenograft Actionable In a preclinical study, LY3023414 inhibited proliferation of non-small cell lung cancer cells harboring PIK3CA G118D in culture, resulted in tumor growth inhibition in cell line xenograft models (PMID: 27439478). 27439478
PIK3CA G118D 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 head and neck squamous cell carcinoma harboring PIK3CA G118D (PMID: 37339176). 37339176