PIK3CA R38H
Gene Variant Detail

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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 increased Pik3ca kinase activity in an in vitro assay and Akt phosphorylation in culture, 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
XM_011512894.2 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
NM_006218.4 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 chr3:g.179198938G>A c.113G>A p.R38H RefSeq GRCh38/hg38
NM_006218.3 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
XM_011512894 chr3:g.179198938G>A c.113G>A p.R38H RefSeq GRCh38/hg38

Filtering

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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 Protein Effect Treatment Approaches
PIK3CA R38H gain of function - predicted Akt Inhibitor (Pan) Akt1 Inhibitor Akt2 Inhibitor mTOR Inhibitor mTORC1 Inhibitor mTORC2 Inhibitor PI3K Inhibitor (Pan) PIK3CA inhibitor