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@genomenon.com

Gene PIK3CA
Variant Q546R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA Q546R lies within the PIK helical domain of the Pik3ca protein (UniProt.org). Q546R results in increased cell proliferation, migration, and Akt phosphorylation (PMID: 34779417) and increased cell survival and transforming ability in culture (PMID: 26627007, PMID: 29533785, PMID: 34779417).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA Q546R

PIK3CA mutant PIK3CA exon10 PIK3CA Q546X PIK3CA Q546R

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.179218307A>G
cDNA c.1637A>G
Protein p.Q546R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011512894 chr3:g.179218307A>G c.1637A>G p.Q546R RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179218307A>G c.1637A>G p.Q546R RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179218307A>G c.1637A>G p.Q546R RefSeq GRCh38/hg38
XM_006713658 chr3:g.179218307A>G c.1637A>G p.Q546R RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179218307A>G c.1637A>G p.Q546R RefSeq GRCh38/hg38
NM_006218 chr3:g.179218307A>G c.1637A>G p.Q546R RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179218307A>G c.1637A>G p.Q546R RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179218307A>G c.1637A>G p.Q546R 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT05455619 Phase Ib/II Capivasertib + Fulvestrant + SDX-7320 Alpelisib + Fulvestrant + SDX-7320 Evexomostat Plus PI3K or AKT Inhibitor and Fulvestrant in Women With a PI3K Alteration and HR+/Her2- Breast Cancer (Amelia-1) Recruiting USA 0