Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.E482G
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PCSK9

NM_174936.4:p.E482G

Associated Papers

Targeting PCSK9 to tackle cardiovascular disease.

Hummelgaard S et al.

Pharmacology & Therapeutics, 2023

Dynamics of the personalities of PCSK9 on missense variants (rs505151 and rs562556) from elderly cohort studies in Brazil.

Galvão Lopes V et al.

Journal of Biomolecular Structure & Dynamics, 2023

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST9_Somatic_Variants

The role of the C-terminal domain of PCSK9 and SEC24 isoforms in PCSK9 secretion.

Deng SJ et al.

Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2020

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

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

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 (PCSK9): lessons learned from patients with hypercholesterolemia.

Awan Z et al.

Clinical Chemistry, 2014

The M2 module of the Cys-His-rich domain (CHRD) of PCSK9 protein is needed for the extracellular low-density lipoprotein receptor (LDLR) degradation pathway.

Saavedra YG et al.

The Journal of Biological Chemistry, 2012

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

Abifadel M et al.

Human Mutation, 2009

PCSK9 as a therapeutic target of dyslipidemia.

Seidah NG

Expert Opinion on Therapeutic Targets, 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

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."