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
S Poirier, G Mayer

7 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
3-184101353-CT-TA CHRD c.1363_1364delCTinsTA p.Leu455* Nonsense 12/23 -
10-74908159-G-A ECD c.916C>T p.His306Tyr Missense 8/14 -
1-55518081-A-C PCSK9 c.654A>C p.Arg218Ser Missense 4/12 -
1-55518081-A-T PCSK9 c.654A>T p.Arg218Ser Missense 4/12 -
1-55518079-AG-GC PCSK9 c.652_653delAGinsGC p.Arg218Ala Missense 4/12 -
1-55523127-G-T PCSK9 c.1120G>T p.Asp374Tyr Missense 7/12 -
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -