PMID: 33643062

New Insights Into the Regulation of Lipoprotein Metabolism by PCSK9: Lessons From Stable Isotope Tracer Studies in Human Subjects.

Frontiers in physiology
Ying, Qidi Q, Chan, Dick C DC, Watts, Gerald F GF
2021

6 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-55509689-T-G PCSK9 c.381T>G p.S127R Missense 2/12 -
1-55505647-G-T PCSK9 c.137G>T p.R46L Missense 1/12 -
1-55523127-G-T PCSK9 c.1120G>T p.D374Y Missense 7/12 -
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 -
1-55509618-C-T PCSK9 c.310C>T p.R104C Missense 2/12 -