Varaico: Literature-Extracted Genetic Variants

Gene:SNAP25
Variant:p.I192N
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SNAP25

NM_130811.4:p.I192N

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

SNAP25 undergoes phase separation to facilitate the assembly of the synaptic vesicle fusion machinery.

Zhu M et al.

Cell Reports, 2026

Genetic disorders of neurotransmitter release machinery.

Uzay B et al.

Frontiers in Synaptic Neuroscience, 2023

Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome.

Reynolds HM et al.

Cold Spring Harbor Molecular Case Studies, 2022

Role of Aberrant Spontaneous Neurotransmission in SNAP25-Associated Encephalopathies.

Alten B et al.

Neuron, 2021

Molecule-to-Circuit Disease Mechanisms of a Synaptic SNAREopathy.

Praschberger R et al.

Neuron, 2021

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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."