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| Gene | PIK3CA |
| Variant | K944N |
| Impact List | missense |
| Protein Effect | gain of function - predicted |
| Gene Variant Descriptions | PIK3CA K944N lies within the PI3K/PI4K domain of the Pik3ca protein (UniProt.org). K944N results in activation of Pik3ca signaling as indicated by increased phosphorylation of Akt and Mapk3/Mapk1 (Erk1/2), and confers resistance to some EGFR inhibitors in cell culture (PMID: 28424201) and therefore, is predicted to lead to a gain of Pik3ca protein function. |
| Associated Drug Resistance | Y |
| Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA K944N PIK3CA mutant PIK3CA exon20 PIK3CA K944N |
| Transcript | NM_006218.4 |
| gDNA | chr3:g.179230272A>C |
| cDNA | c.2832A>C |
| Protein | p.K944N |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| NM_006218 | chr3:g.179230272A>C | c.2832A>C | p.K944N | RefSeq | GRCh38/hg38 |
| XM_011512894 | chr3:g.179230272A>C | c.2832A>C | p.K944N | RefSeq | GRCh38/hg38 |
| NM_006218.4 | chr3:g.179230272A>C | c.2832A>C | p.K944N | RefSeq | GRCh38/hg38 |
| XM_006713658.5 | chr3:g.179230272A>C | c.2832A>C | p.K944N | RefSeq | GRCh38/hg38 |
| NM_006218.3 | chr3:g.179230272A>C | c.2832A>C | p.K944N | RefSeq | GRCh38/hg38 |
| XM_011512894.2 | chr3:g.179230272A>C | c.2832A>C | p.K944N | RefSeq | GRCh38/hg38 |
| XM_006713658 | chr3:g.179230272A>C | c.2832A>C | p.K944N | RefSeq | GRCh38/hg38 |
| XM_006713658.4 | chr3:g.179230272A>C | c.2832A>C | p.K944N | RefSeq | GRCh38/hg38 |
| Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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