Varaico: Literature-Extracted Genetic Variants

Gene:BACE1
Variant:p.D289N
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BACE1

NM_012104.6:p.D289N

Associated Papers

BACE1 modulates gating of KCNQ1 (Kv7.1) and cardiac delayed rectifier KCNQ1/KCNE1 (IKs).

Agsten M et al.

Journal of Molecular and Cellular Cardiology, 2015

BACE1 and presenilin/γ-secretase regulate proteolytic processing of KCNE1 and 2, auxiliary subunits of voltage-gated potassium channels.

Sachse CC et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2013

Adaptor protein 2-mediated endocytosis of the β-secretase BACE1 is dispensable for amyloid precursor protein processing.

Prabhu Y et al.

Molecular Biology of the Cell, 2012

Non-proteolytic effect of beta-site APP-cleaving enzyme 1 (BACE1) on sodium channel function.

Huth T et al.

Neurobiology of Disease, 2009

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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."