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Gene | PIK3CA |
Variant | Q546P |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA Q546P lies within the PIK helical domain of the Pik3ca protein (UniProt.org). Q546P results in increased phosphorylation of Akt, activation of downstream signaling, and is transforming in cell culture (PMID: 17376864, PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA Q546P PIK3CA mutant PIK3CA exon10 PIK3CA Q546X PIK3CA Q546P |
Transcript | NM_006218.4 |
gDNA | chr3:g.179218307A>C |
cDNA | c.1637A>C |
Protein | p.Q546P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713658.5 | chr3:g.179218307A>C | c.1637A>C | p.Q546P | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179218307A>C | c.1637A>C | p.Q546P | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179218307A>C | c.1637A>C | p.Q546P | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179218307A>C | c.1637A>C | p.Q546P | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179218307A>C | c.1637A>C | p.Q546P | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179218307A>C | c.1637A>C | p.Q546P | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179218307A>C | c.1637A>C | p.Q546P | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179218307A>C | c.1637A>C | p.Q546P | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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