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| Gene | PIK3CA |
| Variant | E172Q |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PIK3CA E172Q does not lie within any known functional domains of the Pik3ca protein (UniProt.org). E172Q has been identified in sequencing studies (PMID: 37916958), but has not been biochemically characterized and therefore, its effect on Pik3ca protein function is unknown (PubMed, Jul 2025). |
| Associated Drug Resistance | |
| Category Variants Paths |
PIK3CA mutant PIK3CA E172Q |
| Transcript | NM_006218.4 |
| gDNA | chr3:g.179199851G>C |
| cDNA | c.514G>C |
| Protein | p.E172Q |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006218.4 | chr3:g.179199851G>C | c.514G>C | p.E172Q | RefSeq | GRCh38/hg38 |
| XM_006713658.5 | chr3:g.179199851G>C | c.514G>C | p.E172Q | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|