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| Gene | PIK3CA |
| Variant | E81K |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | PIK3CA E81K lies within the PI3K-ABD domain of the Pik3ca protein (UniProt.org). The functional effect of E81K is conflicting, as it results in cell proliferation, migration, and Akt phosphorylation similar to wild-type Pik3ca in culture and is not transforming in one study (PMID: 34779417), but in other studies it leads to decreased cell proliferation and cell viability (PMID: 29533785) and increased Akt phosphorylation, activation of Mtor signaling, and growth advantage in patient-derived dermal fibroblasts in culture (PMID: 25915946), and therefore, its effect on Pik3ca protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
PIK3CA mutant PIK3CA E81K |
| Transcript | NM_006218.4 |
| gDNA | chr3:g.179199066G>A |
| cDNA | c.241G>A |
| Protein | p.E81K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006713658.5 | chr3:g.179199066G>A | c.241G>A | p.E81K | RefSeq | GRCh38/hg38 |
| XM_006713658 | chr3:g.179199066G>A | c.241G>A | p.E81K | RefSeq | GRCh38/hg38 |
| NM_006218 | chr3:g.179199066G>A | c.241G>A | p.E81K | RefSeq | GRCh38/hg38 |
| XM_011512894.2 | chr3:g.179199066G>A | c.241G>A | p.E81K | RefSeq | GRCh38/hg38 |
| XM_006713658.4 | chr3:g.179199066G>A | c.241G>A | p.E81K | RefSeq | GRCh38/hg38 |
| NM_006218.4 | chr3:g.179199066G>A | c.241G>A | p.E81K | RefSeq | GRCh38/hg38 |
| NM_006218.3 | chr3:g.179199066G>A | c.241G>A | p.E81K | RefSeq | GRCh38/hg38 |
| XM_011512894 | chr3:g.179199066G>A | c.241G>A | p.E81K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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