Varaico: Literature-Extracted Genetic Variants

Gene:STX1A
Variant:p.D231N
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STX1A

NM_004603.4:p.D231N

Associated Papers

Neurotransmitter release is triggered by a calcium-induced rearrangement in the Synaptotagmin-1/SNARE complex primary interface.

Toulmé E et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

Neurotransmitter release is triggered by a calcium-induced rearrangement in the Synaptotagmin-1/SNARE complex primary interface.

Toulmé E et al.

Biorxiv : the Preprint Server for Biology, 2024

The stability of the primed pool of synaptic vesicles and the clamping of spontaneous neurotransmitter release rely on the integrity of the C-terminal half of the SNARE domain of syntaxin-1A.

Salazar Lázaro A et al.

Elife, 2024

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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."