PMID: 24115837

The biology of PCSK9 from the endoplasmic reticulum to lysosomes: new and emerging therapeutics to control low-density lipoprotein cholesterol.

Drug design, development and therapy
Poirier, Steve S, Mayer, GaƩtan G
2013

6 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
10-74908159-G-A ECD c.916C>T p.H306Y Missense 8/14 -
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 -
1-55518079-AG-GC PCSK9 c.652_653delAGinsGC p.R218A Missense 4/12 -
3-184101353-CT-TA CHRD c.1363_1364delCTinsTA p.L455* Nonsense 12/23 -