Varaico: Literature-Extracted Genetic Variants

Gene:CETP
Variant:p.R468Q
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CETP

NM_000078.3:p.R468Q

Associated Papers

Early lipid genetics: identification of common and rare genetic variants for lipid traits in Indian adolescents.

Nair JM et al.

Journal of Human Genetics, 2025

Variants in the CETP gene affect levels of HDL cholesterol by reducing the amount, and not the specific lipid transfer activity, of secreted CETP.

Ølnes ÅS et al.

Plos One, 2023

Transethnic meta-analysis of exome-wide variants identifies new loci associated with male-specific metabolic syndrome.

Lee HS et al.

Genes & Genomics, 2022

Long-term Benefits and Harms Associated With Genetic Cholesteryl Ester Transfer Protein Deficiency in the General Population.

Nordestgaard LT et al.

Jama Cardiology, 2022

Identification and characterization of a rare variant in apolipoprotein A-IV, p.(V336M), and evaluation of HDL functionality in a Greek cohort with extreme HDL cholesterol levels.

Chroni A et al.

Archives of Biochemistry and Biophysics, 2020

CETP genetic variant rs1800777 (allele A) is associated with abnormally low HDL-C levels and increased risk of AKI during sepsis.

Genga KR et al.

Scientific Reports, 2018

Multiplexed Targeted Resequencing Identifies Coding and Regulatory Variation Underlying Phenotypic Extremes of High-Density Lipoprotein Cholesterol in Humans.

Khetarpal SA et al.

Circulation. Genomic and Precision Medicine, 2018

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study.

Dewey FE et al.

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

28008009 (PubMed )
Supplement: aaf6814-dewey-tabless1-s14.xlsx › Table_S6

Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease.

Helgadottir A et al.

Nature Genetics, 2016

Flow-mediated dilation, carotid wall thickness and HDL function in subjects with hyperalphalipoproteinemia.

Vigna GB et al.

Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2014

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.

Johansen CT et al.

Journal of Lipid Research, 2014

24503134 (PubMed )
Supplement: supp_D045963_jlr.D045963-1.pdf

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeII_

Multiple genetic variants along candidate pathways influence plasma high-density lipoprotein cholesterol concentrations.

Lu Y et al.

Journal of Lipid Research, 2008

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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."