Gene Variant Detail

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Gene PIK3CA
Variant P539R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA P539R lies within the PIK helical domain of the Pik3ca protein (UniProt.org). P539R increases the stability of the Pik3ca protein, confers a gain of function, as indicated by constitutive phosphorylation of downstream targets Akt and S6, and is transforming in cell culture (PMID: 18951408, PMID: 17376864, PMID: 29533785).
Associated Drug Resistance

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Transcript NM_006218
gDNA chr3:g.179218286C>G
cDNA c.1616C>G
Protein p.P539R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011512894 chr3:g.179218286C>G c.1616C>G p.P539R RefSeq GRCh38/hg38
NM_006218 chr3:g.179218286C>G c.1616C>G p.P539R RefSeq GRCh38/hg38
XM_006713658 chr3:g.179218286C>G c.1616C>G p.P539R 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 P539R breast cancer sensitive BAY1125976 Preclinical - Cell culture Actionable In a preclinical study, BAY1125976 inhibited proliferation of a breast cancer cell line harboring PIK3CA P539R in culture (PMID: 27699769). 27699769
PIK3CA P539R breast cancer predicted - sensitive CYH33 Preclinical - Cell culture Actionable In a preclinical study, CYH33 inhibited proliferation of a breast cancer cell line harboring PIK3CA P539R in culture (PMID: 30003928). 30003928
PIK3CA P539R PIK3CA H1047R breast cancer sensitive Miransertib Preclinical - Cell culture Actionable In a preclinical study, breast cancer cells harboring PIK3CA P539R and H1047R were sensitive to Miransertib (ARQ092) in culture, demonstrating inhibition of cell growth (PMID: 26469692). 26469692
PIK3CA P539R PIK3CA H1047R breast cancer sensitive PF-04691502 Preclinical - Cell culture Actionable In a preclinical study, PF-04691502 inhibited Akt phosphorylation and proliferation of breast cancer cells harboring both PIK3CA P539R and H1047R in culture (PMID: 21750219). 21750219
PIK3CA P539R PIK3CA H1047R breast cancer sensitive ARQ 751 Preclinical - Cell culture Actionable In a preclinical study, a breast cancer cell line harboring PIK3CA P539R and PH1047R was sensitive to ARQ 751 in culture, demonstrating inhibition of cell growth (PMID: 26469692). 26469692