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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_006218.4 | 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 |
XM_006713658.4 | 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 |
NM_006218.3 | 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 | chr3:g.179230272A>C | c.2832A>C | p.K944N | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PIK3CA K944N | colorectal cancer | resistant | Cetuximab + Fluorouracil | Case Reports/Case Series | Actionable | In a clinical study, PIK3CA K944N was identified as a potential mechanism for acquired Erbitux (cetuximab) resistance in two colorectal cancer patients, which is supported by cell culture studies demonstrating resistance to Erbitux (cetuximab) and Fluorouracil combination treatment in colorectal cancer cells over expressing PIK3CA K944N (PMID: 28424201). | 28424201 |