PMID: 33244470

PCSK9 Gene E670G Polymorphism and Coronary Artery Disease: An Updated Meta-Analysis of 5,484 Subjects.

Frontiers in cardiovascular medicine
Li, Yan-Yan YY, Wang, Hui H, Yang, Xin-Xing XX, Geng, Hong-Yu HY, Gong, Ge G, Lu, Xin-Zheng XZ
2020

16 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55524303-C-T PCSK9 c.1486C>T p.R496W Missense 9/12 -
1-55505604-G-A PCSK9 c.94G>A p.E32K Missense 1/12 -
1-55509689-T-G PCSK9 c.381T>G p.S127R Missense 2/12 -
1-55529187-G-A PCSK9 c.2009G>A p.G670E Missense 12/12 -
1-55509689-T-A PCSK9 c.381T>A p.S127R Missense 2/12 -
1-55509687-A-C PCSK9 c.379A>C p.S127R Missense 2/12 -
1-55518073-T-C PCSK9 c.646T>C p.F216L Missense 4/12 -
1-55518075-C-A PCSK9 c.648C>A p.F216L Missense 4/12 -
1-55518075-C-G PCSK9 c.648C>G 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 -
1-55509694-A-G PCSK9 c.386A>G p.D129G Missense 2/12 -
1-55509693-G-A PCSK9 c.385G>A p.D129N Missense 2/12 -
1-55521784-G-C PCSK9 c.918G>C p.R306S Missense 6/12 -
1-55521784-G-T PCSK9 c.918G>T p.R306S Missense 6/12 -
1-55518071-G-A PCSK9 c.644G>A p.R215H Missense 4/12 -