Varaico: Literature-Extracted Genetic Variants

Gene:SORL1
Variant:p.W1862C
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SORL1

NM_003105.6:p.W1862C

Associated Papers

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

Soluble SorLA in CSF, a novel biomarker to explore disrupted trafficking of SorLA protein in Alzheimer disease.

Castelot R et al.

Alzheimer's Research & Therapy, 2025

40336092 (PubMed )
Supplement: 13195_2025_1748_MOESM3_ESM.xlsx › Feuille1

SorLA Protective Function Is Restored by Improving SorLA Protein Maturation in a Subset of Alzheimer's Disease-Associated SORL1 Missense Variants.

Miguel L et al.

Journal of Alzheimer's Disease : Jad, 2023

Impaired SorLA maturation and trafficking as a new mechanism for SORL1 missense variants in Alzheimer disease.

Rovelet-Lecrux A et al.

Acta Neuropathologica Communications, 2021

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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."