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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 |
| 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_006218.4 | 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 | 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_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 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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