Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.P284A
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PSEN1

NM_000021.4:p.P284A

Associated Papers

Mutational re-modeling of di-aspartyl intramembrane proteases: uncoupling physiologically-relevant activities from those associated with Alzheimer's disease.

Grigorenko AP et al.

Oncotarget, 2017

A ubiquitin-binding CUE domain in presenilin-1 enables interaction with K63-linked polyubiquitin chains.

Duggan SP et al.

Febs Letters, 2015

Identification of gamma-secretase inhibitor potency determinants on presenilin.

Zhao B et al.

The Journal of Biological Chemistry, 2008

Functional domains in presenilin 1: the Tyr-288 residue controls gamma-secretase activity and endoproteolysis.

Laudon H et al.

The Journal of Biological Chemistry, 2004

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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."