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Gene PIK3CA
Variant R38H
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions PIK3CA R38H lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). R38H results in moderate increase of Pik3ca kinase activity and Akt phosphorylation, but is not transforming in culture in one study (PMID: 15930273), however in another study, increased transformation in two different cell lines (PMID: 29533785), and therefore, is predicted to lead to a gain of Pik3ca protein function.
Associated Drug Resistance
Category Variants Paths

PIK3CA mutant PIK3CA act mut PIK3CA R38H

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Transcript NM_006218.4
gDNA chr3:g.179198938G>A
cDNA c.113G>A
Protein p.R38H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006218.3 chr3:g.179198938G>A c.113G>A p.R38H RefSeq GRCh38/hg38
XM_006713658.4 chr3:g.179198938G>A c.113G>A p.R38H RefSeq GRCh38/hg38
XM_006713658.5 chr3:g.179198938G>A c.113G>A p.R38H RefSeq GRCh38/hg38
XM_006713658 chr3:g.179198938G>A c.113G>A p.R38H RefSeq GRCh38/hg38
NM_006218 chr3:g.179198938G>A c.113G>A p.R38H RefSeq GRCh38/hg38
NM_006218.4 chr3:g.179198938G>A c.113G>A p.R38H RefSeq GRCh38/hg38
XM_011512894.2 chr3:g.179198938G>A c.113G>A p.R38H RefSeq GRCh38/hg38
XM_011512894 chr3:g.179198938G>A c.113G>A p.R38H RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References