PMID: 25349778

Is there a link between proprotein convertase PC7 activity and human lipid homeostasis?

FEBS open bio
Guillemot, Johann J, Essalmani, Rachid R, Hamelin, Josée J, Seidah, Nabil G NG
2014

6 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
11-117075566-C-T TAGLN c.*491C>T - IntergenicSNV 5/5 -
11-117091609-G-C PCSK7 c.1156-1135C>G - IntronicSNV - 9/16
11-117091609-G-A PCSK7 c.1156-1135C>T - IntronicSNV - 9/16
11-117089205-C-T PCSK7 c.1511G>A p.R504H Missense 12/17 -
1-55517984-A-G PCSK9 c.557A>G p.D186G Missense 4/12 -
11-66636391-CCT-ACA PC c.946_948delAGGinsTGT p.R316C Missense 10/23 -