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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 | 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 |
XM_006713658.5 | 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_011512894.2 | 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 | 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 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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