Varaico: Literature-Extracted Genetic Variants

Gene:APOE
Variant:p.L173P
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APOE

NM_000041.4:p.L173P

Associated Papers

Structural Analysis of Missense Mutations on the Stability of APOE3 and APOE4.

Anthony M et al.

Genes, 2025

Identification of a founder haplotype of APOE Kyoto variant in lipoprotein glomerulopathy.

Wu H et al.

Clinical Kidney Journal, 2025

40800214 (PubMed )
Supplement: sfaf234_supplemental_file.pdf

Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features.

Matsunaga A et al.

Journal of Atherosclerosis and Thrombosis, 2025

Clinicopathological characteristics and gene mutations in 11 patients with lipoprotein glomerulopathy.

Qin Y et al.

Renal Failure, 2024

A novel apolipoprotein E mutation, ApoE Ganzhou (Arg43Cys), in a Chinese son and his father with lipoprotein glomerulopathy: two case reports.

Wang R et al.

Journal of Medical Case Reports, 2022

Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report.

Li Y et al.

Medicine, 2022

An Updated Review and Meta Analysis of Lipoprotein Glomerulopathy.

Li MS et al.

Frontiers in Medicine, 2022

35602473 (PubMed )
Supplement: Table_1.DOCX

Lipoprotein glomerulopathy associated with the Osaka/Kurashiki APOE variant: two cases identified in Latin America.

da Silveira-Neto JN et al.

Diagnostic Pathology, 2021

Clinical and genetic analysis of lipoprotein glomerulopathy patients caused by APOE mutations.

Yang M et al.

Molecular Genetics & Genomic Medicine, 2020

Thermodynamic destabilization and aggregation propensity as the mechanism behind the association of apoE3 mutants and lipoprotein glomerulopathy.

Katsarou M et al.

Journal of Lipid Research, 2018

The Novel Apolipoprotein E Mutation ApoE Chengdu (c.518T>C, p.L173P) in a Chinese Patient with Lipoprotein Glomerulopathy.

Wu H et al.

Journal of Atherosclerosis and Thrombosis, 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."