Varaico: Literature-Extracted Genetic Variants

Gene:SCARB1
Variant:p.P376L
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SCARB1

NM_005505.5:p.P376L

Associated Papers

Association of High-Density Lipoprotein Cholesterol with Macular Structure in Nonglaucomatous Individuals.

Inooka T et al.

Ophthalmology Science, 2026

Sequencing and functional characterization of SCARB1 variants in subjects with extreme HDL cholesterol levels.

Gracia-Rubio I et al.

Journal of Clinical Lipidology, 2025

Rare and common coding variants in lipid metabolism-related genes and their association with coronary artery disease.

Li W et al.

Bmc Cardiovascular Disorders, 2024

Advancing diagnosis and management of liver disease in adults through exome sequencing.

Zheng M et al.

Ebiomedicine, 2023

SR-B1's Next Top Model: Structural Perspectives on the Functions of the HDL Receptor.

Powers HR et al.

Current Atherosclerosis Reports, 2022

Genetics and regulation of HDL metabolism.

Kardassis D et al.

Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2022

SR-B1, a Key Receptor Involved in the Progression of Cardiovascular Disease: A Perspective from Mice and Human Genetic Studies.

Gracia-Rubio I et al.

Biomedicines, 2021

Low High-Density Lipoprotein Cholesterol and High White Blood Cell Counts: A Mendelian Randomization Study.

Harsløf M et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2021

Human variant of scavenger receptor BI (R174C) exhibits impaired cholesterol transport functions.

May SC et al.

Journal of Lipid Research, 2021

In-depth Mendelian randomization analysis of causal factors for coronary artery disease.

Tan YD et al.

Scientific Reports, 2020

Lipoprotein receptor signalling in atherosclerosis.

Mineo C

Cardiovascular Research, 2020

Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.

van den Boogert MAW et al.

Journal of Inherited Metabolic Disease, 2020

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Association of rs5888 SNP in SCARB1 gene with coronary artery disease : Study of a Han Chinese population.

Xie L et al.

Herz, 2019

Rare P376L variant in the SR-BI gene associates with HDL dysfunction and risk of cardiovascular disease.

Samadi S et al.

Clinical Biochemistry, 2019

CETP, LIPC, and SCARB1 variants in individuals with extremely high high-density lipoprotein-cholesterol levels.

Lee CJ et al.

Scientific Reports, 2019

Association of Endonuclease G Gene Variants with Cardiovascular Disease Risk Factors.

Etehad Roodi N et al.

Reports of Biochemistry & Molecular Biology, 2019

The hepatic WASH complex is required for efficient plasma LDL and HDL cholesterol clearance.

Wijers M et al.

Jci Insight, 2019

Proline residues in scavenger receptor-BI's C-terminal region support efficient cholesterol transport.

Proudfoot SC et al.

The Biochemical Journal, 2019

Genetic Variants Associated With Plasma Lipids Are Associated With the Lipid Response to Niacin.

Tuteja S et al.

Journal of the American Heart Association, 2018

Rare SCARB1 mutations associate with high-density lipoprotein cholesterol but not with coronary artery disease.

Helgadottir A et al.

European Heart Journal, 2018

HDL and atherosclerotic cardiovascular disease: genetic insights into complex biology.

Rosenson RS et al.

Nature Reviews. Cardiology, 2018

Sterol Metabolism and Transport in Atherosclerosis and Cancer.

Yamauchi Y et al.

Frontiers in Endocrinology, 2018

New insights into the role of glycosylation in lipoprotein metabolism.

van den Boogert MAW et al.

Current Opinion in Lipidology, 2017

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease.

Lu X et al.

Nature Genetics, 2017

29083407 (PubMed )
Supplement: NIHMS909133-supplement-2.xlsx › Supplementary_Table_11

HDL Cholesterol Metabolism and the Risk of CHD: New Insights from Human Genetics.

Vitali C et al.

Current Cardiology Reports, 2017

Influence of SCARB1 gene SNPs on serum lipid levels and susceptibility to coronary heart disease and cerebral infarction in a Chinese population.

Zeng TT et al.

Gene, 2017

Fifteen new risk loci for coronary artery disease highlight arterial-wall-specific mechanisms.

Howson JMM et al.

Nature Genetics, 2017

A decade of progress on the genetic basis of coronary artery disease. Practical insights for the internist.

Girelli D et al.

European Journal of Internal Medicine, 2017

SR-B1 and PDZK1: partners in HDL regulation.

Trigatti BL

Current Opinion in Lipidology, 2017

NMR Structure of the C-Terminal Transmembrane Domain of the HDL Receptor, SR-BI, and a Functionally Relevant Leucine Zipper Motif.

Chadwick AC et al.

Structure (london, England : 1993), 2017

Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease.

Webb TR et al.

Journal of the American College of Cardiology, 2017

SCARB1 Gene Variants Are Associated With the Phenotype of Combined High High-Density Lipoprotein Cholesterol and High Lipoprotein (a).

Yang X et al.

Circulation. Cardiovascular Genetics, 2016

A role for TENM1 mutations in congenital general anosmia.

Alkelai A et al.

Clinical Genetics, 2016

27040985 (PubMed )
Supplement: supplement_1.pdf

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Wang M et al.

Scientific Reports, 2016

27527004 (PubMed )
Supplement: srep31321-s5.xls › VaribenchSelectedPure

Rare Genetic Variants and High-Density Lipoprotein: Marching to a Different Drum.

Trigatti BL et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2016

Rare variant in scavenger receptor BI raises HDL cholesterol and increases risk of coronary heart disease.

Zanoni P et al.

Science (new York, N.y.), 2016

Experimental Biology for the Identification of Causal Pathways in Atherosclerosis.

Guo Y et al.

Cardiovascular Drugs and Therapy, 2016

Single nucleotide polymorphisms in genes that are common targets of luteotropin and luteolysin in primate corpus luteum: computational exploration.

Suresh PS et al.

Gene, 2012

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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."