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Gene | PIK3CA |
Variant | N345T |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | PIK3CA N345T lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). N345T results in increased transformation ability in two different cell lines in culture (PMID: 29533785), 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 N345T PIK3CA mutant PIK3CA exon5 PIK3CA N345T |
Transcript | NM_006218.4 |
gDNA | chr3:g.179203764A>C |
cDNA | c.1034A>C |
Protein | p.N345T |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |