Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.Y142*
Back to variants list

PCSK9

NM_174936.4:p.Y142*

Associated Papers

Impact of loss-of-function variations of PCSK9 on LDLR interaction and dynamics: Implications for heart function.

Kulshreshtha A et al.

Biochemical and Biophysical Research Communications, 2026

PCSK9 and Lipid Metabolism: Genetic Variants, Current Therapies, and Cardiovascular Outcomes.

Grejtakova D et al.

Cardiovascular Drugs and Therapy, 2025

PCSK9 genetic variants, carotid atherosclerosis and vascular remodelling.

Coggi D et al.

Open Heart, 2025

The role of protective genetic variants in modulating epigenetic aging.

Bejaoui Y et al.

Geroscience, 2025

Genetic Variants, Bioactive Compounds, and PCSK9 Inhibitors in Hyper-LDL-Cholesterolemia: A GWAS and In Silico Study on Cardiovascular Disease Risk.

Liu M et al.

Nutrients, 2025

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › ST2D.Vars_in_all_genes_MMRF

The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.

Azar Y et al.

Atherosclerosis, 2024

Correlation of Eight (8) Polymorphisms and Their Genotypes with the Risk Factors of Cardiovascular Disease in a Black Elderly Population.

Chalwe JM et al.

Current Issues in Molecular Biology, 2024

The Impact of PCSK9 Gene Polymorphisms on Ischemic Stroke: A Systematic Review and Meta-Analysis.

Wang J et al.

Journal of Integrative Neuroscience, 2024

Function of proprotein convertase subtilisin/kexin type 9 and its role in central nervous system diseases: An update on clinical evidence.

Zhu XB et al.

Drug Development Research, 2024

Drug development advances in human genetics-based targets.

Zhang X et al.

Medcomm, 2024

Targeting proprotein convertase subtilisin/kexin type 9 (PCSK9): from bench to bedside.

Bao X et al.

Signal Transduction and Targeted Therapy, 2024

Using metabolic abnormalities of carriers in the neonatal period to evaluate the pathogenicity of variants of uncertain significance in methylmalonic acidemia.

Xiao D et al.

Frontiers in Genetics, 2024

39076170 (PubMed )
Supplement: Table1.DOCX

Pleiotropy of PCSK9: Functions in Extrahepatic Tissues.

Şener YZ et al.

Current Cardiology Reports, 2023

Current Data and New Insights into the Genetic Factors of Atherogenic Dyslipidemia Associated with Metabolic Syndrome.

Butnariu LI et al.

Diagnostics (basel, Switzerland), 2023

New Loss-of-Function Mutations in PCSK9 Reduce Plasma LDL Cholesterol.

Meng FH et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2023

Proprotein convertase subtilisin/kexin type 9 (PCSK9) in the central nervous system.

Bell AS et al.

Neuroscience and Biobehavioral Reviews, 2023

Association of Rare Protein-Truncating DNA Variants in APOB or PCSK9 With Low-density Lipoprotein Cholesterol Level and Risk of Coronary Heart Disease.

Dron JS et al.

Jama Cardiology, 2023

Serum proprotein convertase subtilisin/Kexin type 9 and vascular disease in type 2 diabetic patients.

Armentaro G et al.

European Journal of Clinical Investigation, 2023

Genetic and molecular architecture of familial hypercholesterolemia.

Abifadel M et al.

Journal of Internal Medicine, 2023

Effect of PCSK9 on atherosclerotic cardiovascular diseases and its mechanisms: Focus on immune regulation.

Ma M et al.

Frontiers in Cardiovascular Medicine, 2023

Proteomics and Lipidomics to unveil the contribution of PCSK9 beyond cholesterol lowering: a narrative review.

Gianazza E et al.

Frontiers in Cardiovascular Medicine, 2023

Proprotein Convertase Subtilisin/Kexin Type 9 Inhibition: The Big Step Forward in Lipid Control.

Rikhi R et al.

European Cardiology, 2023

PCSK9 in Liver Cancers at the Crossroads between Lipid Metabolism and Immunity.

Alannan M et al.

Cells, 2022

Recent Update on the Development of PCSK9 Inhibitors for Hypercholesterolemia Treatment.

Ahamad S et al.

Journal of Medicinal Chemistry, 2022

Molecular and cellular biology of PCSK9: impact on glucose homeostasis.

Tchéoubi SER et al.

Journal of Drug Targeting, 2022

The role of PCSK9 in NAFLD/NASH and therapeutic implications of PCSK9 inhibition.

Momtazi-Borojeni AA et al.

Expert Review of Clinical Pharmacology, 2022

The Multifaceted Biology of PCSK9.

Seidah NG et al.

Endocrine Reviews, 2022

Insight into the Evolving Role of PCSK9.

Maligłówka M et al.

Metabolites, 2022

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

Lebeau PF et al.

Metabolites, 2022

Proprotein Convertase Subtilisin/Kexin Type 9: A View beyond the Canonical Cholesterol-Lowering Impact.

Macchi C et al.

The American Journal of Pathology, 2021

Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes.

Goodrich JK et al.

Nature Communications, 2021

PCSK9 Biology and Its Role in Atherothrombosis.

Barale C et al.

International Journal of Molecular Sciences, 2021

Physiology and role of PCSK9 in vascular disease: Potential impact of localized PCSK9 in vascular wall.

Guo Y et al.

Journal of Cellular Physiology, 2021

Role of PCSK9 Inhibitors in Patients with Familial Hypercholesterolemia.

Tomlinson B et al.

Endocrinology and Metabolism (seoul, Korea), 2021

Unique roles of rare variants in the genetics of complex diseases in humans.

Momozawa Y et al.

Journal of Human Genetics, 2021

The PCSK9 discovery, an inactive protease with varied functions in hypercholesterolemia, viral infections, and cancer.

Seidah NG

Journal of Lipid Research, 2021

Lipoprotein(a) and PCSK9 inhibition: clinical evidence.

Ruscica M et al.

European Heart Journal Supplements : Journal of the European Society of Cardiology, 2020

PCSK9: A Key Target for the Treatment of Cardiovascular Disease (CVD).

Sobati S et al.

Advanced Pharmaceutical Bulletin, 2020

Beyond cholesterol metabolism: The pleiotropic effects of proprotein convertase subtilisin/kexin type 9 (PCSK9). Genetics, mutations, expression, and perspective for long-term inhibition.

Cesaro A et al.

Biofactors (oxford, England), 2020

Widening the spectrum of genetic testing in familial hypercholesterolaemia: Will it translate into better patient and population outcomes?

Page MM et al.

Clinical Genetics, 2020

Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.

Pottinger TD et al.

Journal of the American Heart Association, 2020

A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene.

Tada H et al.

Internal Medicine (tokyo, Japan), 2020

Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in the Brain and Relevance for Neuropsychiatric Disorders.

O'Connell EM et al.

Frontiers in Neuroscience, 2020

Proprotein Convertase Subtilisin/Kexin-Type 9 and Lipid Metabolism.

Guo S et al.

Advances in Experimental Medicine and Biology, 2020

SELAdb: A database of exonic variants in a Brazilian population referred to a quaternary medical center in São Paulo.

Lerario AM et al.

Clinics (sao Paulo, Brazil), 2020

PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Guo Q et al.

Frontiers in Genetics, 2020

PCSK9 loss-of-function variants and Lp(a) phenotypes among black US adults.

Mefford MT et al.

Journal of Lipid Research, 2019

Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Capalbo A et al.

Plos Genetics, 2019

31589614 (PubMed )
Supplement: pgen.1008409.s003.xlsx › Secondary_Findings_P_LP_Variant
1–50 of 178 papers
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."