Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.V225A
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APP

NM_000484.4:p.V225A

Associated Papers

Protein aggregation in neurodegenerative diseases.

Wang J et al.

Chinese Medical Journal, 2025

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 pathogenic APP N-terminal Val225Ala mutation alters tau protein liquid-liquid phase separation and exacerbates synaptic damage.

Chen J et al.

Molecular Psychiatry, 2025

AmazonForest: In Silico Metaprediction of Pathogenic Variants.

Palheta HGA et al.

Biology, 2022

Different clinical and neuroimaging features of Japanese dementia siblings with a new N-terminal mutation (Val225Ala) of APP gene.

Ohta Y et al.

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia, 2020

APP, PSEN1, and PSEN2 Mutations in Asian Patients with Early-Onset Alzheimer Disease.

Giau VV et al.

International Journal of Molecular Sciences, 2019

Focusing mutations into the P. fluorescens esterase binding site increases enantioselectivity more effectively than distant mutations.

Park S et al.

Chemistry & Biology, 2005

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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."