Varaico: Literature-Extracted Genetic Variants

Gene:SCARB1
Variant:p.G319V
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SCARB1

NM_005505.5:p.G319V

Associated Papers

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

Inherited Variants in SCARB1 Cause Severe Early-Onset Coronary Artery Disease.

Koenig SN et al.

Circulation Research, 2021

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

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

May SC et al.

Journal of Lipid Research, 2021

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

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

Samadi S et al.

Clinical Biochemistry, 2019

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

Etehad Roodi N et al.

Reports of Biochemistry & Molecular Biology, 2019

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

Helgadottir A et al.

European Heart Journal, 2018

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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."