PMID: 27496869

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

Cardiovascular research
GD Norata, H Tavori, A Pirillo, S Fazio, AL Catapano
2016-10

6 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55505647-G-T PCSK9 c.137G>T p.Arg46Leu Missense 1/12 -
1-55529215-C-A PCSK9 c.2037C>A p.Cys679* Nonsense 12/12 -
1-55509689-T-A PCSK9 c.381T>A p.Ser127Arg Missense 2/12 -
1-55512222-C-G PCSK9 c.426C>G p.Tyr142* Nonsense 3/12 -
1-55523127-G-C PCSK9 c.1120G>C p.Asp374His Missense 7/12 -
1-55509693-G-A PCSK9 c.385G>A p.Asp129Asn Missense 2/12 -