Varaico: Literature-Extracted Genetic Variants

Gene:APP
Variant:p.E246K
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APP

NM_000484.4:p.E246K

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

Chen J et al.

Molecular Psychiatry, 2025

Rare Amyloid Precursor Protein Point Mutations Recapitulate Worldwide Migration and Admixture in Healthy Individuals: Implications for the Study of Neurodegeneration.

Abondio P et al.

International Journal of Molecular Sciences, 2022

36555510 (PubMed )
Supplement: ijms-23-15871-s001.zip › ijms-2049902-supplementary.xlsx › S1

Systematic validation of variants of unknown significance in APP, PSEN1 and PSEN2.

Hsu S et al.

Neurobiology of Disease, 2020

Processing of Mutant β-Amyloid Precursor Protein and the Clinicopathological Features of Familial Alzheimer's Disease.

Bi C et al.

Aging and Disease, 2019

On the identification of low allele frequency mosaic mutations in the brains of Alzheimer's disease patients.

Sala Frigerio C et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2015

Unfolded Protein Response and PERK Kinase as a New Therapeutic Target in the Pathogenesis of Alzheimer's Disease.

Rozpedek W et al.

Current Medicinal Chemistry, 2015

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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."