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Gene | PIK3CA |
Variant | C604R |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA C604R lies within the PIK helical domain of the Pik3ca protein (UniProt.org). C604R results in increased cell proliferation, migration, and Akt phosphorylation compared to wild-type Pik3ca (PMID: 34779417) and increased transformation ability in several different cell lines in culture (PMID: 29533785, PMID: 34779417). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA C604R |
Transcript | NM_006218.4 |
gDNA | chr3:g.179219634T>C |
cDNA | c.1810T>C |
Protein | p.C604R |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |