Varaico: Literature-Extracted Genetic Variants

Gene:STXBP1
Variant:p.E278K
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STXBP1

NM_001032221.6:p.E278K

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

Domain 3a of Munc18-1 plays a crucial role at the priming stage of exocytosis.

Han GA et al.

Journal of Cell Science, 2013

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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."