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PIK3CA R38C - Gene Variant Detail

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Gene PIK3CA
Variant R38C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions PIK3CA R38C lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). R38C confers a gain of function to Pik3ca, as indicated by increased phosphorylation of downstream targets Akt, GSK3-beta, FoxO1, FoxO3a, and S6 in cell culture (PMID: 18829572) and demonstrates increased transformation ability in two different cell lines, as compared to wild-type Pik3ca (PMID: 29533785).
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA R38C

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Transcript NM_006218.4
gDNA chr3:g.179198937C>T
cDNA c.112C>T
Protein p.R38C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713658.4 chr3:g.179198937C>T c.112C>T p.R38C RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179198937C>T c.112C>T p.R38C RefSeq GRCh38/hg38
NM_006218 chr3:g.179198937C>T c.112C>T p.R38C RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179198937C>T c.112C>T p.R38C RefSeq GRCh38/hg38
XM_006713658 chr3:g.179198937C>T c.112C>T p.R38C RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179198937C>T c.112C>T p.R38C RefSeq GRCh38/hg38
XM_011512894 chr3:g.179198937C>T c.112C>T p.R38C RefSeq GRCh38/hg38
NM_006218.3 chr3:g.179198937C>T c.112C>T p.R38C RefSeq GRCh38/hg38

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  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
PIK3CA R38C head and neck squamous cell carcinoma sensitive Sulindac Preclinical - Pdx Actionable In a preclinical study, Clinoril (sulindac) treatment reduced tumor growth rate in patient-derived xenograft (PDX) models of head and neck squamous cell carcinoma harboring PIK3CA mutations, including PIK3CA R38C (PMID: 30683736). 30683736