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| Gene | PIK3CA |
| Variant | E970K |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | PIK3CA E970K lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). E970K results in phosphorylated Akt levels similar to wild-type Pik3ca, but increased proliferation and cell migration and is transforming in culture (PMID: 34779417), and therefore, is predicted to lead to a gain of Pik3ca protein function. |
| Associated Drug Resistance | |
| Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA E970K PIK3CA mutant PIK3CA exon20 PIK3CA E970K |
| Transcript | NM_006218.4 |
| gDNA | chr3:g.179230348G>A |
| cDNA | c.2908G>A |
| Protein | p.E970K |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006218.4 | chr3:g.179230348G>A | c.2908G>A | p.E970K | RefSeq | GRCh38/hg38 |
| XM_006713658.5 | chr3:g.179230348G>A | c.2908G>A | p.E970K | RefSeq | GRCh38/hg38 |
| XM_011512894.2 | chr3:g.179230348G>A | c.2908G>A | p.E970K | RefSeq | GRCh38/hg38 |
| NM_006218.3 | chr3:g.179230348G>A | c.2908G>A | p.E970K | RefSeq | GRCh38/hg38 |
| XM_006713658.4 | chr3:g.179230348G>A | c.2908G>A | p.E970K | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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