Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.H391N
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PCSK9

NM_174936.4:p.H391N

Associated Papers

Structural dynamics of PCSK9 loss-of-function variants: implications for LDL cholesterol regulation and cardiovascular risk.

Tarique M et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2025

Targeting PCSK9 to tackle cardiovascular disease.

Hummelgaard S et al.

Pharmacology & Therapeutics, 2023

The Emerging Roles of Intracellular PCSK9 and Their Implications in Endoplasmic Reticulum Stress and Metabolic Diseases.

Lebeau PF et al.

Metabolites, 2022

Identifying individual risk rare variants using protein structure guided local tests (POINT).

Marceau West R et al.

Plos Computational Biology, 2019

Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

Klarin D et al.

Nature Genetics, 2018

30275531 (PubMed )
Supplement: NIHMS1502930-supplement-8.xlsx › Sheet1

Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

Chorba JS et al.

The Journal of Biological Chemistry, 2018

Complexity of mechanisms among human proprotein convertase subtilisin-kexin type 9 variants.

Dron JS et al.

Current Opinion in Lipidology, 2017

Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.

Le QT et al.

The Journal of Biological Chemistry, 2015

PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies.

Tran NT et al.

Frontiers in Genetics, 2015

Proprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseases.

Ferri N

Scientifica, 2012

Proprotein convertase subtilisin/kexin type 9 (PCSK9): from structure-function relation to therapeutic inhibition.

Tibolla G et al.

Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2011

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.

Abifadel M et al.

Human Mutation, 2009

Molecular basis of PCSK9 function.

Lambert G et al.

Atherosclerosis, 2009

Molecular population genetics of PCSK9: a signature of recent positive selection.

Ding K et al.

Pharmacogenetics and Genomics, 2008

Evidence for positive selection in the C-terminal domain of the cholesterol metabolism gene PCSK9 based on phylogenetic analysis in 14 primate species.

Ding K et al.

Plos One, 2007

[After the LDL receptor and apolipoprotein B, autosomal dominant hypercholesterolemia reveals its third protagonist: PCSK9].

Abifadel M et al.

Annales D'endocrinologie, 2007

Structural and biophysical studies of PCSK9 and its mutants linked to familial hypercholesterolemia.

Cunningham D et al.

Nature Structural & Molecular Biology, 2007

A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.

Kotowski IK et al.

American Journal of Human Genetics, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."