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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 |
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 | 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 |
XM_011512894.2 | 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 |
NM_006218 | 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_006218.4 | chr3:g.179198938G>A | c.113G>A | p.R38H | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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