Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@genomenon.com
Gene | PIK3CA |
Variant | D350N |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | PIK3CA D350N lies within the C2 PI3K-type domain of the Pik3ca protein (UniProt.org). D350N 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 D350N PIK3CA mutant PIK3CA exon5 PIK3CA D350N |
Transcript | NM_006218.4 |
gDNA | chr3:g.179203778G>A |
cDNA | c.1048G>A |
Protein | p.D350N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |