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| Gene | PIK3CA |
| Variant | Q75E |
| Impact List | missense |
| Protein Effect | gain of function |
| Gene Variant Descriptions | PIK3CA Q75E lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). Q75E results in increased cell proliferation, migration, and increased phosphorylation of Akt compared to wild-type Pik3ca and is transforming in culture (PMID: 34779417). |
| Associated Drug Resistance | |
| Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA Q75E |
| Transcript | NM_006218.4 |
| gDNA | chr3:g.179199048C>G |
| cDNA | c.223C>G |
| Protein | p.Q75E |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_011512894.2 | chr3:g.179199048C>G | c.223C>G | p.Q75E | RefSeq | GRCh38/hg38 |
| XM_006713658.4 | chr3:g.179199048C>G | c.223C>G | p.Q75E | RefSeq | GRCh38/hg38 |
| NM_006218 | chr3:g.179199048C>G | c.223C>G | p.Q75E | RefSeq | GRCh38/hg38 |
| XM_011512894 | chr3:g.179199048C>G | c.223C>G | p.Q75E | RefSeq | GRCh38/hg38 |
| XM_006713658.5 | chr3:g.179199048C>G | c.223C>G | p.Q75E | RefSeq | GRCh38/hg38 |
| XM_006713658 | chr3:g.179199048C>G | c.223C>G | p.Q75E | RefSeq | GRCh38/hg38 |
| NM_006218.3 | chr3:g.179199048C>G | c.223C>G | p.Q75E | RefSeq | GRCh38/hg38 |
| NM_006218.4 | chr3:g.179199048C>G | c.223C>G | p.Q75E | RefSeq | GRCh38/hg38 |
| Molecular Profile | Protein Effect | Treatment Approaches |
|---|---|---|
| PIK3CA Q75E | gain of function |