Varaico: Literature-Extracted Genetic Variants

Gene:LRP6
Variant:p.R473Q
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LRP6

NM_002336.3:p.R473Q

Associated Papers

Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.

Lang GT et al.

Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026

41718387 (PubMed )
Supplement: pathophysiology-33-00009-s001.zip › Supplementary_Table_1.pdf

Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.

Andersen OM et al.

Molecular Neurodegeneration, 2025

41327266 (PubMed )
Supplement: 13024_2025_907_MOESM2_ESM.pdf

Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood.

Jakubek YA et al.

American Journal of Human Genetics, 2025

39809269 (PubMed )
Supplement: mmc2.xlsx › S17

Regulation of the Low-Density Lipoprotein Receptor-Related Protein LRP6 and Its Association With Disease: Wnt/β-Catenin Signaling and Beyond.

Jeong W et al.

Frontiers in Cell and Developmental Biology, 2021

The interplay of canonical and noncanonical Wnt signaling in metabolic syndrome.

Abou Ziki MD et al.

Nutrition Research (new York, N.y.), 2019

The association of LRP6 rs2302685 (V1062I) polymorphism with the risk of hyperlipidemia in Iranian children and adolescents.

Montazeri-Najafabady N et al.

Annals of Human Genetics, 2018

Harnessing low-density lipoprotein receptor protein 6 (LRP6) genetic variation and Wnt signaling for innovative diagnostics in complex diseases.

Wang ZM et al.

The Pharmacogenomics Journal, 2018

Mutant LRP6 Impairs Endothelial Cell Functions Associated with Familial Normolipidemic Coronary Artery Disease.

Guo J et al.

International Journal of Molecular Sciences, 2016

27455246 (PubMed )
Supplement: ijms-17-01173-s001.pdf

Metabolic syndrome: genetic insights into disease pathogenesis.

Abou Ziki MD et al.

Current Opinion in Lipidology, 2016

Rare nonconservative LRP6 mutations are associated with metabolic syndrome.

Singh R et al.

Human Mutation, 2013

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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."