PMID: 35162992

Emerging Insights on the Diverse Roles of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Chronic Liver Diseases: Cholesterol Metabolism and Beyond.

International journal of molecular sciences
Grewal, Thomas T, Buechler, Christa C
2022-01-19

11 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55505647-G-T PCSK9 c.137G>T p.R46L Missense 1/12 -
1-55518071-G-A PCSK9 c.644G>A p.R215H Missense 4/12 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
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 -
1-55512252-G-T PCSK9 c.456G>T p.Q152H Missense 3/12 -
1-55512252-G-C PCSK9 c.456G>C p.Q152H Missense 3/12 -
1-55523855-G-A PCSK9 c.1327G>A p.A443T Missense 8/12 -
1-55518422-C-T PCSK9 c.757C>T p.L253F Missense 5/12 -
1-55518007-CG-GC PCSK9 c.580_581delCGinsGC p.R194A Missense 4/12 -