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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 |
---|---|---|---|---|---|
NM_006218.4 | chr3:g.179218294G>C | c.1624G>C | p.E542Q | RefSeq | GRCh38/hg38 |
XM_006713658.4 | 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_006713658 | 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 |
NM_006218.3 | 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 | chr3:g.179218294G>C | c.1624G>C | p.E542Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PIK3CA E542Q | unknown | |
PIK3CA E542Q PIK3CA E674Q |