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Gene | PIK3CA |
Variant | R519G |
Impact List | missense |
Protein Effect | no effect |
Gene Variant Descriptions | PIK3CA R519G lies within the PIK helical domain of the Pik3ca protein (UniProt.org). R519G results in levels of cell proliferation, migration, and phosphorylation of Akt similar to wild-type Pik3ca and is not transforming in culture (PMID: 34779417). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA exon10 PIK3CA R519G |
Transcript | NM_006218.4 |
gDNA | chr3:g.179218225A>G |
cDNA | c.1555A>G |
Protein | p.R519G |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_011512894.2 | chr3:g.179218225A>G | c.1555A>G | p.R519G | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179218225A>G | c.1555A>G | p.R519G | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179218225A>G | c.1555A>G | p.R519G | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179218225A>G | c.1555A>G | p.R519G | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179218225A>G | c.1555A>G | p.R519G | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
PIK3CA R519G | no effect |