PMID: 27496869

Biology of proprotein convertase subtilisin kexin 9: beyond low-density lipoprotein cholesterol lowering.

Cardiovascular research
Norata, Giuseppe Danilo GD, Tavori, Hagai H, Pirillo, Angela A, Fazio, Sergio S, Catapano, Alberico L AL
2016-10

5 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55509693-G-A PCSK9 c.385G>A p.D129N Missense 2/12 -
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 -
1-55509689-T-A PCSK9 c.381T>A p.S127R Missense 2/12 -
1-55523127-G-C PCSK9 c.1120G>C p.D374H Missense 7/12 -