Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC2
Variant:p.A350D
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IQSEC2

NM_001111125.3:p.A350D

Associated Papers

IQSEC2/BRAG1 may modulate postsynaptic density assembly through Ca2+-induced phase separation.

Bai G et al.

The Journal of Cell Biology, 2025

Ca2+-induced release of IQSEC2/BRAG1 autoinhibition under physiological and pathological conditions.

Bai G et al.

The Journal of Cell Biology, 2023

BRAG about (s)lots.

Brown JC et al.

The Journal of Cell Biology, 2023

Molecular Insights into IQSEC2 Disease.

Levy NS et al.

International Journal of Molecular Sciences, 2023

Daily Brief Heat Therapy Reduces Seizures in A350V IQSEC2 Mice and Is Associated with Correction of AMPA Receptor-Mediated Synaptic Dysfunction.

Jada R et al.

International Journal of Molecular Sciences, 2023

Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder.

Accogli A et al.

Journal of Genetics, 2020

IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients.

Mignot C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Molecular modeling of ARF6 dysregulation caused by mutations in IQSEC2.

Shokhen M et al.

Journal of Biomolecular Structure & Dynamics, 0

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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."