Varaico: Literature-Extracted Genetic Variants

Gene:NSF
Variant:p.F215L
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NSF

NM_006178.4:p.F215L

Associated Papers

LRRK2 G2019S kinase activity triggers neurotoxic NSF aggregation.

Pischedda F et al.

Brain : a Journal of Neurology, 2021

LRRK2 phosphorylates pre-synaptic N-ethylmaleimide sensitive fusion (NSF) protein enhancing its ATPase activity and SNARE complex disassembling rate.

Belluzzi E et al.

Molecular Neurodegeneration, 2016

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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."