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Gene | PIK3CA |
Variant | C378R |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA C378R lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). C378R results in constitutive activation of Pi3k and Akt signaling, and decreased apoptosis in cell culture (PMID: 17363507). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA C378R |
Transcript | NM_006218.4 |
gDNA | chr3:g.179204575T>C |
cDNA | c.1132T>C |
Protein | p.C378R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218.3 | chr3:g.179204575T>C | c.1132T>C | p.C378R | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179204575T>C | c.1132T>C | p.C378R | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179204575T>C | c.1132T>C | p.C378R | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179204575T>C | c.1132T>C | p.C378R | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179204575T>C | c.1132T>C | p.C378R | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179204575T>C | c.1132T>C | p.C378R | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179204575T>C | c.1132T>C | p.C378R | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179204575T>C | c.1132T>C | p.C378R | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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