Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S206R
Back to variants list

LDLR

NM_000527.5:p.S206R

Associated Papers

Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.

Dzhumaniiazova I et al.

Genes, 2025

41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1

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

Human Exome Sequencing and Prospects for Predictive Medicine: Analysis of International Data and Own Experience.

Glotov OS et al.

Journal of Personalized Medicine, 2023

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

Meshkov A et al.

Genes, 2021

Identification of novel variants in the LDLR gene in Russian patients with familial hypercholesterolemia using targeted sequencing.

Miroshnikova VV et al.

Biomedical Reports, 2021

Molecular modeling of LDLR aids interpretation of genomic variants.

Klee EW et al.

Journal of Molecular Medicine (berlin, Germany), 2019

30778614 (PubMed )
Supplement: 109_2019_1755_MOESM1_ESM.xlsx › TableS1

Analysis of lipid metabolism and its impact on the risk of ischemic heart disease in patients with definite familial hypercholesterolemia.

Korneva V et al.

Atherosclerosis. Supplements, 2017

Cholesterol Levels in Genetically Determined Familial Hypercholesterolaemia in Russian Karelia.

Korneva VA et al.

Cholesterol, 2017

[Familial hypercholesterolemia due to a new mutation in the low density lipoprotein receptor gene].

Korneva VA et al.

Klinicheskaia Meditsina, 2014

Familial hypercholesterolemia mutations in Petrozavodsk: no similarity to St. Petersburg mutation spectrum.

Komarova TY et al.

Bmc Medical Genetics, 2013

[New mutations in low-density lipoprotein receptor gene in familial hypercholesterolemia patients from Petrozavodsk].

Komarova TY et al.

Genetika, 2013

[A case of familial hypercholesterolemia caused by a novel mutation p. FsS65:D129X of human low density lipoprotein receptor gene].

Korneva VA et al.

Kardiologiia, 2013

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."