Varaico: Literature-Extracted Genetic Variants

Gene:STX1A
Variant:p.C145S
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STX1A

NM_004603.4:p.C145S

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

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy.

Luppe J et al.

European Journal of Human Genetics : Ejhg, 2023

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

Re-examining how Munc13-1 facilitates opening of syntaxin-1.

Magdziarek M et al.

Protein Science : a Publication of the Protein Society, 2020

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

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

Ma C et al.

Nature Structural & Molecular Biology, 2011

S-nitrosylation of syntaxin 1 at Cys(145) is a regulatory switch controlling Munc18-1 binding.

Palmer ZJ et al.

The Biochemical Journal, 2008

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