PMID: 23135270

Furin-cleaved proprotein convertase subtilisin/kexin type 9 (PCSK9) is active and modulates low density lipoprotein receptor and serum cholesterol levels.

The Journal of biological chemistry
MT Lipari, W Li, P Moran, M Kong-Beltran, T Sai, J Lai, SJ Lin, G Kolumam, J Zavala-Solorio, A Izrael-Tomasevic, D Arnott, J Wang, AS Peterson, D Kirchhofer

6 variants were identified in this publication

Variant ID Gene cDNA Protein Consequence Exon Intron
1-55518073-T-C PCSK9 c.646T>C p.Phe216Leu Missense 4/12 -
1-55518079-AG-GC PCSK9 c.652_653delAGinsGC p.Arg218Ala Missense 4/12 -
1-55518070-CG-GC PCSK9 c.643_644delCGinsGC p.Arg215Ala Missense 4/12 -
1-55518071-G-A PCSK9 c.644G>A p.Arg215His Missense 4/12 -
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 -