Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.E466K
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STXBP1

NM_001032221.6:p.E466K

Associated Papers

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

Munc18-1 tuning of vesicle merger and fusion pore properties.

Jorgacevski J et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011

Structure-function study of mammalian Munc18-1 and C. elegans UNC-18 implicates domain 3b in the regulation of exocytosis.

Graham ME et al.

Plos One, 2011

A gain-of-function mutant of Munc18-1 stimulates secretory granule recruitment and exocytosis and reveals a direct interaction of Munc18-1 with Rab3.

Graham ME et al.

The Biochemical Journal, 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."