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 (UniProt.org). C420R confers a gain of function on Pik3ca, as indicated by constitutive phosphorylation of downstream targets Akt and S6, increased cell proliferation and migration, and is transforming in cell culture (PMID: 17376864, PMID: 29533785, PMID: 34779417).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA C420R

PIK3CA mutant PIK3CA exon8 PIK3CA C420R

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Transcript NM_006218.4
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
NM_006218 chr3:g.179210192T>C c.1258T>C p.C420R RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179210192T>C c.1258T>C p.C420R RefSeq GRCh38/hg38
XM_011512894 chr3:g.179210192T>C c.1258T>C p.C420R RefSeq GRCh38/hg38
NM_006218.3 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_006218.4 chr3:g.179210192T>C c.1258T>C p.C420R RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179210192T>C c.1258T>C p.C420R RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179210192T>C c.1258T>C p.C420R 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 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
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 breast cancer sensitive MK2206 Preclinical - Cell culture Actionable In a preclinical study, MK2206 treatment induced cell death and inhibited proliferation of a breast cancer cell line harboring PIK3CA C420R in culture (PMID: 32439931). 32439931
PIK3CA C420R breast cancer sensitive ARQ 751 Preclinical - Cell culture Actionable In a preclinical study, ARQ 751 treatment induced cell death and inhibited proliferation of a breast cancer cell line harboring PIK3CA C420R in culture (PMID: 32439931). 32439931
PIK3CA C420R breast cancer sensitive Miransertib Preclinical - Cell culture Actionable In a preclinical study, Miransertib (ARQ092) treatment induced cell death and inhibited proliferation of a breast cancer cell line harboring PIK3CA C420R in culture (PMID: 32439931). 32439931
PIK3CA C420R breast cancer predicted - sensitive GSK690693 Preclinical - Cell culture Actionable In a preclinical study, GSK690693 treatment did not increase cell death but inhibited proliferation of a breast cancer cell line harboring PIK3CA C420R in culture (PMID: 32439931). 32439931
PIK3CA C420R breast cancer predicted - sensitive Ipatasertib Preclinical - Cell culture Actionable In a preclinical study, Ipatasertib (GDC-0068) treatment did not increase cell death but inhibited proliferation of a breast cancer cell line harboring PIK3CA C420R in culture (PMID: 32439931). 32439931