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Gene | PIK3CA |
Variant | Q546L |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | PIK3CA Q546L lies within the PIK helical domain of the Pik3ca protein (UniProt.org). Q546L results in increased transformation ability in two different cell lines in culture (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 Q546L PIK3CA mutant PIK3CA exon10 PIK3CA Q546X PIK3CA Q546L |
Transcript | NM_006218.4 |
gDNA | chr3:g.179218307A>T |
cDNA | c.1637A>T |
Protein | p.Q546L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218.4 | chr3:g.179218307A>T | c.1637A>T | p.Q546L | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179218307A>T | c.1637A>T | p.Q546L | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179218307A>T | c.1637A>T | p.Q546L | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179218307A>T | c.1637A>T | p.Q546L | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179218307A>T | c.1637A>T | p.Q546L | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179218307A>T | c.1637A>T | p.Q546L | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179218307A>T | c.1637A>T | p.Q546L | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179218307A>T | c.1637A>T | p.Q546L | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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