Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.Y473D
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STXBP1

NM_001032221.6:p.Y473D

Associated Papers

Molecular Mechanisms Underlying Neurotransmitter Release.

Rizo J

Annual Review of Biophysics, 2022

Chaperoning SNARE Folding and Assembly.

Zhang Y et al.

Annual Review of Biochemistry, 2021

A Munc18-1 mutant mimicking phosphorylation by Down Syndrome-related kinase Dyrk1a supports normal synaptic transmission and promotes recovery after intense activity.

Classen J et al.

Scientific Reports, 2020

MUNC18-1 regulates the submembrane F-actin network, independently of syntaxin1 targeting, via hydrophobicity in β-sheet 10.

Pons-Vizcarra M et al.

Journal of Cell Science, 2019

Munc18-1 catalyzes neuronal SNARE assembly by templating SNARE association.

Jiao J et al.

Elife, 2018

Tyrosine phosphorylation of Munc18-1 inhibits synaptic transmission by preventing SNARE assembly.

Meijer M et al.

The Embo Journal, 2018

The Interaction of Munc18-1 Helix 11 and 12 with the Central Region of the VAMP2 SNARE Motif Is Essential for SNARE Templating and Synaptic Transmission.

André T et al.

Eneuro, 0

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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."