PMID: 28439730

Physiological and therapeutic regulation of PCSK9 activity in cardiovascular disease.

Basic research in cardiology
Glerup, Simon S, Schulz, Rainer R, Laufs, Ulrich U, Schl├╝ter, Klaus-Dieter KD

7 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
1-55529215-C-A PCSK9 c.2037C>A p.C679* Nonsense 12/12 -
1-55512222-C-G PCSK9 c.426C>G p.Y142* Nonsense 3/12 -
10-74908159-G-A ECD c.916C>T p.H306Y Missense 8/14 -
1-55509689-T-A PCSK9 c.381T>A p.S127R Missense 2/12 -
1-55518073-T-C PCSK9 c.646T>C p.F216L Missense 4/12 -
1-55518081-A-C PCSK9 c.654A>C p.R218S Missense 4/12 -
1-55518081-A-T PCSK9 c.654A>T p.R218S Missense 4/12 -