Varaico: Literature-Extracted Genetic Variants

Gene:PRNP
Variant:p.A2V
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PRNP

NM_000311.5:p.A2V

Associated Papers

Protein aggregation and its affecting mechanisms in neurodegenerative diseases.

Wu J et al.

Neurochemistry International, 2024

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Effects of the Pathogenic Mutation A117V and the Protective Mutation H111S on the Folding and Aggregation of PrP106-126: Insights from Replica Exchange Molecular Dynamics Simulations.

Ning L et al.

Plos One, 2015

The peculiar role of the A2V mutation in amyloid-β (Aβ) 1-42 molecular assembly.

Messa M et al.

The Journal of Biological Chemistry, 2014

Alzheimer's Aβ peptides with disease-associated N-terminal modifications: influence of isomerisation, truncation and mutation on Cu2+ coordination.

Drew SC et al.

Plos One, 2010

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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."