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 | D549N |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | PIK3CA D549N lies within the PIK helical domain of the Pik3ca protein (UniProt.org). D549N 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 D549N PIK3CA mutant PIK3CA exon10 PIK3CA D549N |
Transcript | NM_006218.4 |
gDNA | chr3:g.179218315G>A |
cDNA | c.1645G>A |
Protein | p.D549N |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_006218.4 | chr3:g.179218315G>A | c.1645G>A | p.D549N | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179218315G>A | c.1645G>A | p.D549N | RefSeq | GRCh38/hg38 |
XM_006713658.5 | chr3:g.179218315G>A | c.1645G>A | p.D549N | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179218315G>A | c.1645G>A | p.D549N | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179218315G>A | c.1645G>A | p.D549N | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179218315G>A | c.1645G>A | p.D549N | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179218315G>A | c.1645G>A | p.D549N | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179218315G>A | c.1645G>A | p.D549N | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|