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 | R108H |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | PIK3CA R108H lies within the p85 domain of the Pik3ca protein (PMID: 15016963). R108H results in increased phosphorylation of Akt, activation of downstream signaling in cell culture (PMID: 18829572), and demonstrates increased transformation ability in two different cell lines, as compared to wild-type Pik3ca (PMID: 29533785). |
Associated Drug Resistance | |
Category Variants Paths |
PIK3CA mutant PIK3CA act mut PIK3CA R108H |
Transcript | NM_006218.4 |
gDNA | chr3:g.179199148G>A |
cDNA | c.323G>A |
Protein | p.R108H |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006713658.5 | chr3:g.179199148G>A | c.323G>A | p.R108H | RefSeq | GRCh38/hg38 |
XM_006713658 | chr3:g.179199148G>A | c.323G>A | p.R108H | RefSeq | GRCh38/hg38 |
NM_006218 | chr3:g.179199148G>A | c.323G>A | p.R108H | RefSeq | GRCh38/hg38 |
XM_006713658.4 | chr3:g.179199148G>A | c.323G>A | p.R108H | RefSeq | GRCh38/hg38 |
XM_011512894.2 | chr3:g.179199148G>A | c.323G>A | p.R108H | RefSeq | GRCh38/hg38 |
NM_006218.3 | chr3:g.179199148G>A | c.323G>A | p.R108H | RefSeq | GRCh38/hg38 |
NM_006218.4 | chr3:g.179199148G>A | c.323G>A | p.R108H | RefSeq | GRCh38/hg38 |
XM_011512894 | chr3:g.179199148G>A | c.323G>A | p.R108H | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
---|