Gene Variant Detail

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Gene PIK3CA
Variant C420R
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA C420R lies within the C2 PI3K-type domain of the Pik3ca protein (PMID: 17376864). C420R confers a gain of function on Pik3ca, as indicated by constitutive phosphorylation of downstream targets Akt and S6, and is transforming in cell culture (PMID: 17376864, PMID: 29533785).
Associated Drug Resistance

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Transcript NM_006218
gDNA chr3:g.179210192T>C
cDNA c.1258T>C
Protein p.C420R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011512894 chr3:g.179210192T>C c.1258T>C p.C420R RefSeq GRCh38/hg38
XM_006713658 chr3:g.179210192T>C c.1258T>C p.C420R RefSeq GRCh38/hg38
NM_006218 chr3:g.179210192T>C c.1258T>C p.C420R 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 C420R ovarian clear cell adenocarcinoma sensitive DS-7423 Preclinical - Cell culture Actionable In a preclinical study, an ovarian clear cell adenocarcinoma cell line harboring PIK3CA C420R was sensitive to DS-7423 in culture, demonstrating inhibition of cell proliferation (PMID: 24504419). 24504419
PIK3CA C420R Advanced Solid Tumor sensitive Sirolimus Preclinical Actionable In a preclinical study, cells expressing PIK3CA C420R were sensitive to Rapamune (sirolimus) in culture (PMID: 17376864). 17376864
ERBB2 amp PIK3CA C420R breast cancer sensitive CH5132799 Preclinical Actionable In a preclinical study, CH5132799 inhibited proliferation of a breast cancer cell line harboring PIK3CA C420R and ERBB2 (HER2) amplification (PMID: 21558396). 21558396
ERBB2 amp PIK3CA C420R breast cancer sensitive CYH33 Preclinical - Cell culture Actionable In a preclinical study, CYH33 inhibited proliferation of breast cancer cell lines harboring PIK3CA C420R and ERBB2 (HER2) amplification in culture (PMID: 30003928). 30003928
ERBB2 pos PIK3CA C420R Her2-receptor positive breast cancer sensitive Ado-trastuzumab emtansine Preclinical - Cell culture Actionable In a preclinical study, Kadcyla (trastuzumab emtansine) inhibited survival of ERBB2 (HER2) positive breast cancer cells harboring PIK3CA C420R in culture (PMID: 26920887). 26920887