Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.L348R
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STXBP1

NM_001032221.6:p.L348R

Associated Papers

Identification of residues critical for the extension of Munc18-1 domain 3a.

Wang X et al.

Bmc Biology, 2023

On the difficulties of characterizing weak protein interactions that are critical for neurotransmitter release.

Rizo J et al.

Febs Open Bio, 2022

SNARE assembly enlightened by cryo-EM structures of a synaptobrevin-Munc18-1-syntaxin-1 complex.

Stepien KP et al.

Science Advances, 2022

Molecular Mechanisms Underlying Neurotransmitter Release.

Rizo J

Annual Review of Biophysics, 2022

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

Autoinhibition of Munc18-1 modulates synaptobrevin binding and helps to enable Munc13-dependent regulation of membrane fusion.

Sitarska E et al.

Elife, 2017

Extension of Helix 12 in Munc18-1 Induces Vesicle Priming.

Munch AS et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016

A pivotal role for pro-335 in balancing the dual functions of Munc18-1 domain-3a in regulated exocytosis.

Han GA et al.

The Journal of Biological Chemistry, 2014

An extended helical conformation in domain 3a of Munc18-1 provides a template for SNARE (soluble N-ethylmaleimide-sensitive factor attachment protein receptor) complex assembly.

Parisotto D et al.

The Journal of Biological Chemistry, 2014

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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."