Varaico: Literature-Extracted Genetic Variants

Gene:SNAP25
Variant:p.C88S
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SNAP25

NM_130811.4:p.C88S

Associated Papers

SNAP-25 disease variants affect synaptic transmission by destabilizing SNARE complexes within a multimeric SNARE ring.

Vold VA et al.

Cell Reports, 2026

Synaptobrevin-2 disease variants reveal spatial constraints within the presynaptic active zone.

Guzikowski NJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

41166419 (PubMed )
Supplement: pnas.2507347122.sapp.pdf

Complexin-1 regulated assembly of single neuronal SNARE complex revealed by single-molecule optical tweezers.

Hao T et al.

Communications Biology, 2023

36750663 (PubMed )
Supplement: 42003_2023_4506_MOESM1_ESM.pdf

A dynamic template complex mediates Munc18-chaperoned SNARE assembly.

Yang J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

Munc18-1 catalyzes neuronal SNARE assembly by templating SNARE association.

Jiao J et al.

Elife, 2018

Two Disease-Causing SNAP-25B Mutations Selectively Impair SNARE C-terminal Assembly.

Rebane AA et al.

Journal of Molecular Biology, 2018

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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."