Varaico: Literature-Extracted Genetic Variants

Gene:VAPA
Variant:p.P56S
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VAPA

NM_194434.3:p.P56S

Associated Papers

VAP, a Versatile Access Point for the Endoplasmic Reticulum: Review and analysis of FFAT-like motifs in the VAPome.

Murphy SE et al.

Biochimica Et Biophysica Acta, 2016

Protein aggregation due to nsSNP resulting in P56S VABP protein is associated with amyotrophic lateral sclerosis.

Vinay Kumar C et al.

Journal of Theoretical Biology, 2014

Amyotrophic lateral sclerosis (ALS)-associated VAPB-P56S inclusions represent an ER quality control compartment.

Kuijpers M et al.

Acta Neuropathologica Communications, 2013

FFAT rescues VAPA-mediated inhibition of ER-to-Golgi transport and VAPB-mediated ER aggregation.

Prosser DC et al.

Journal of Cell Science, 2008

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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."