Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.S310A
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PSEN1

NM_000021.4:p.S310A

Associated Papers

Pathogenic PS1 phosphorylation at Ser367.

Maesako M et al.

Elife, 2017

Identification of new Presenilin-1 phosphosites: implication for γ-secretase activity and Aβ production.

Matz A et al.

Journal of Neurochemistry, 2015

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

Duggan SP et al.

Febs Letters, 2015

A structural switch of presenilin 1 by glycogen synthase kinase 3beta-mediated phosphorylation regulates the interaction with beta-catenin and its nuclear signaling.

Prager K et al.

The Journal of Biological Chemistry, 2007

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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."