Varaico: Literature-Extracted Genetic Variants

Gene:SORL1
Variant:p.Y391C
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SORL1

NM_003105.6:p.Y391C

Associated Papers

Is SORL1 a common genetic target across neurodegenerative diseases?: A multi-ancestry biobank scale assessment.

Khani M et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

Soluble SORL1 in cerebrospinal fluid as a marker for functional impact of rare SORL1 variants.

de Waal MWJ et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2026

41685556 (PubMed )
Supplement: ALZ-22-e71042-s003.docx

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

Andersen OM et al.

Molecular Neurodegeneration, 2025

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

Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry.

Patel D et al.

Jama Network Open, 2019

Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy.

Holstege H et al.

European Journal of Human Genetics : Ejhg, 2017

28537274 (PubMed )
Supplement: ejhg201787x2.xlsx › Holstege_et_al_Table_S3
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