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

2012-12-21

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	-