Varaico: Literature-Extracted Genetic Variants

Gene:VAMP2
Variant:p.A67P
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VAMP2

NM_014232.3:p.A67P

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

Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.

Scorrano G et al.

International Journal of Molecular Sciences, 2024

VAMP2 Gene-Related Neurodevelopmental Disorder: A Differential Diagnosis for Rett/Angelman-Type Spectrum of Disorders.

Bogue D et al.

Molecular Syndromology, 2023

Vesicle trafficking with snares: a perspective for autism.

Özdemir Ç et al.

Molecular Biology Reports, 2022

Disorders of synaptic vesicle fusion machinery.

Melland H et al.

Journal of Neurochemistry, 2021

Variant in the neuronal vesicular SNARE VAMP2 (synaptobrevin-2): First report in Japan.

Sunaga Y et al.

Brain & Development, 2020

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

Salpietro V et al.

American Journal of Human Genetics, 2019

30929742 (PubMed )
Supplement: mmc1.pdf
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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."