Varaico: Literature-Extracted Genetic Variants

Gene:STX1A
Variant:p.S249C
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STX1A

NM_004603.4:p.S249C

Associated Papers

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

Sensory deficit screen identifies nsf mutation that differentially affects SNARE recycling and quality control.

Gao Y et al.

Cell Reports, 2023

Molecular Mechanisms of Synaptic Vesicle Priming by Munc13 and Munc18.

Lai Y et al.

Neuron, 2017

Munc13 mediates the transition from the closed syntaxin-Munc18 complex to the SNARE complex.

Ma C et al.

Nature Structural & Molecular Biology, 2011

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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."