Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.E140Q
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KCNQ2

NM_172107.4:p.E140Q

Associated Papers

Neurodevelopmental features in KCNQ2 developmental and epileptic encephalopathy may have limited associations with KV7.2 dysfunction.

Bidwell JS et al.

Epilepsia Open, 2025

MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants.

Saez-Matia A et al.

International Journal of Molecular Sciences, 2024

Structural Mechanism of ω-Currents in a Mutated Kv7.2 Voltage Sensor Domain from Molecular Dynamics Simulations.

Alberini G et al.

Journal of Chemical Information and Modeling, 2021

Epileptic Encephalopathy In A Patient With A Novel Variant In The Kv7.2 S2 Transmembrane Segment: Clinical, Genetic, and Functional Features.

Soldovieri MV et al.

International Journal of Molecular Sciences, 2019

Ca2+-saturated calmodulin binds tightly to the N-terminal domain of A-type fibroblast growth factor homologous factors.

Mahling R et al.

The Journal of Biological Chemistry, 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."