Varaico: Literature-Extracted Genetic Variants

Gene:KCNQ2
Variant:p.K283R
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KCNQ2

NM_172107.4:p.K283R

Associated Papers

Molecular dynamics of the pathogenic KCNQ2 variant G256W reveals mechanisms of channel dysfunction in epileptic encephalopathy.

Thompson EC et al.

Journal of Biomolecular Structure & Dynamics, 2026

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

38474157 (PubMed )
Supplement: ijms-25-02910-s001.zip › Supp_Data_3_KCNQ2_All_Predictions.xlsx › CatBoost

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation.

Traynelis J et al.

Genome Research, 2017

28864458 (PubMed )
Supplement: supp_gr.226589.117_Supplemental_Data_S1.xlsx › Data_S1

Ionic permeation and conduction properties of neuronal KCNQ2/KCNQ3 potassium channels.

Prole DL et al.

Biophysical Journal, 2004

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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."