Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.E132K
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STXBP1

NM_001032221.6:p.E132K

Associated Papers

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

Vesicle fusion probability is determined by the specific interactions of munc18.

Smyth AM et al.

The Journal of Biological Chemistry, 2010

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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."