Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L383F
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PSEN1

NM_000021.4:p.L383F

Associated Papers

Important functional role of residue x of the presenilin GxGD protease active site motif for APP substrate cleavage specificity and substrate selectivity of γ-secretase.

Kretner B et al.

Journal of Neurochemistry, 2013

Structural and Functional Determinants of gamma-Secretase, an Intramembrane Protease Implicated in Alzheimer's Disease.

Fraering PC

Current Genomics, 2007

The GxGD motif of presenilin contributes to catalytic function and substrate identification of gamma-secretase.

Yamasaki A et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006

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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."