Varaico: Literature-Extracted Genetic Variants

Gene:RHBDL1
Variant:p.D238N
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RHBDL1

NM_001278720.2:p.D238N

Associated Papers

A gain-of-function mutation in synaptotagmin-1 reveals a critical role of Ca2+-dependent soluble N-ethylmaleimide-sensitive factor attachment protein receptor complex binding in synaptic exocytosis.

Pang ZP et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006

Structure/function analysis of Ca2+ binding to the C2A domain of synaptotagmin 1.

Fernández-Chacón R et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2002

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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."