Varaico: Literature-Extracted Genetic Variants

Gene:PSEN1
Variant:p.L435V
Back to variants list

PSEN1

NM_000021.4:p.L435V

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

Attenuated Abeta42 responses to low potency gamma-secretase modulators can be overcome for many pathogenic presenilin mutants by second-generation compounds.

Kretner B et al.

The Journal of Biological Chemistry, 2011

C-terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation.

Wang J et al.

Journal of Neurochemistry, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."