Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S586P
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LDLR

NM_000527.5:p.S586P

Associated Papers

Comorbidities and Molecular Genetics Status in Familial and Nonfamilial Hypercholesterolemia: A Single-Center Study.

Timoshchenko O et al.

International Journal of Molecular Sciences, 2026

41683642 (PubMed )
Supplement: ijms-27-01214-s001.zip › ijms-4006452-supplementary.pdf

Family hypercholesterolemia due to LDLR gene in Vietnamese children: characteristics of phenotype and genotype.

Do MTT et al.

Molecular Genetics and Metabolism Reports, 2025

Improved Genetic Characterization of Hypercholesterolemia in Latvian Patients with Familial Hypercholesterolemia: A Combined Monogenic and Polygenic Approach Using Whole-Genome Sequencing.

Atava I et al.

International Journal of Molecular Sciences, 2024

Exploring LDLR-APOB Interactions in Familial Hypercholesterolemia in the Vietnamese Population: A Protein-Protein Docking Approach.

Kim NT et al.

Bioinformatics and Biology Insights, 2024

Diagnosis of Familial Hypercholesterolemia in Children and Young Adults.

Timoshchenko O et al.

International Journal of Molecular Sciences, 2023

Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.

Ryu J et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37732177 (PubMed )
Supplement: media-3.zip › Supplementary_Tables › TableS8_features_full_struc.xlsx › in

The LDLR, APOB, and PCSK9 Variants of Index Patients with Familial Hypercholesterolemia in Russia.

Meshkov A et al.

Genes, 2021

Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Semenova AE et al.

Journal of Cardiovascular Development and Disease, 2020

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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."