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| Gene | PIK3CA |
| Variant | E542Q |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PIK3CA E542Q lies within the PIK helical domain of the Pik3ca protein (UniProt.org). E542Q results in cell proliferation and cell viability similar to wild-type Pik3ca in one of two different cell lines in culture (PMID: 29533785), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
PIK3CA mutant PIK3CA exon10 PIK3CA E542X PIK3CA E542Q |
| Transcript | NM_006218.4 |
| gDNA | chr3:g.179218294G>C |
| cDNA | c.1624G>C |
| Protein | p.E542Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006713658.4 | chr3:g.179218294G>C | c.1624G>C | p.E542Q | RefSeq | GRCh38/hg38 |
| NM_006218.4 | chr3:g.179218294G>C | c.1624G>C | p.E542Q | RefSeq | GRCh38/hg38 |
| XM_011512894.2 | chr3:g.179218294G>C | c.1624G>C | p.E542Q | RefSeq | GRCh38/hg38 |
| NM_006218.3 | chr3:g.179218294G>C | c.1624G>C | p.E542Q | RefSeq | GRCh38/hg38 |
| XM_006713658.5 | chr3:g.179218294G>C | c.1624G>C | p.E542Q | RefSeq | GRCh38/hg38 |
| XM_011512894 | chr3:g.179218294G>C | c.1624G>C | p.E542Q | RefSeq | GRCh38/hg38 |
| XM_006713658 | chr3:g.179218294G>C | c.1624G>C | p.E542Q | RefSeq | GRCh38/hg38 |
| NM_006218 | chr3:g.179218294G>C | c.1624G>C | p.E542Q | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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