Varaico: Literature-Extracted Genetic Variants

Gene:BACE1
Variant:p.A2T
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BACE1

NM_012104.6:p.A2T

Associated Papers

Distinct functional constraints driving conservation of the cofilin N-terminal regulatory tail.

Sexton JA et al.

Nature Communications, 2024

Alzheimer's protection effect of A673T mutation may be driven by lower Aβ oligomer binding affinity.

Limegrover CS et al.

Journal of Neurochemistry, 2021

Aβ34 is a BACE1-derived degradation intermediate associated with amyloid clearance and Alzheimer's disease progression.

Liebsch F et al.

Nature Communications, 2019

Pathogenic Aβ A2V versus protective Aβ A2T mutation: Early stage aggregation and membrane interaction.

Colombo L et al.

Biophysical Chemistry, 2017

The Alzheimer disease protective mutation A2T modulates kinetic and thermodynamic properties of amyloid-β (Aβ) aggregation.

Benilova I et al.

The Journal of Biological Chemistry, 2014

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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."