Varaico: Literature-Extracted Genetic Variants

Gene:PSEN2
Variant:p.Q228L
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PSEN2

NM_000447.3:p.Q228L

Associated Papers

The landscape of autosomal-dominant Alzheimer's disease: global distribution and age of onset.

Liu H et al.

Brain : a Journal of Neurology, 2025

39903689 (PubMed )
Supplement: awaf038_supplementary_data.zip › 3-Supplemental_Table2_AR_20250121_Jlli_B_Alz.pdf

The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.

Liu L et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2024

A Novel Rare PSEN2 Val226Ala in PSEN2 in a Korean Patient with Atypical Alzheimer's Disease, and the Importance of PSEN2 5th Transmembrane Domain (TM5) in AD Pathogenesis.

Yang Y et al.

International Journal of Molecular Sciences, 2024

The pathogenicity of PSEN2 variants is tied to Aβ production and homology to PSEN1.

Liu L et al.

Biorxiv : the Preprint Server for Biology, 2024

Insights into membrane-bound presenilin 2 from all-atom molecular dynamics simulations.

Dehury B et al.

Journal of Biomolecular Structure & Dynamics, 2020

Familial Alzheimer's disease sustained by presenilin 2 mutations: systematic review of literature and genotype-phenotype correlation.

Canevelli M et al.

Neuroscience and Biobehavioral Reviews, 2014

The genetics of Alzheimer's disease.

Bagyinszky E et al.

Clinical Interventions in Aging, 2014

Conformational altered p53 as an early marker of oxidative stress in Alzheimer's disease.

Buizza L et al.

Plos One, 2012

Molecular genetics of Alzheimer's disease: an update.

Brouwers N et al.

Annals of Medicine, 2008

Alzheimer dementia caused by a novel mutation located in the APP C-terminal intracytosolic fragment.

Theuns J et al.

Human Mutation, 2006

Genetic aspects of Alzheimer's disease.

Zekanowski C et al.

Acta Neurobiologiae Experimentalis, 2004

Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland.

Zekanowski C et al.

Experimental Neurology, 2003

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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."