Varaico: Literature-Extracted Genetic Variants

Gene:KCNA2
Variant:p.H310R
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KCNA2

NM_004974.4:p.H310R

Associated Papers

Protocol to study human Kv1.2 potassium channel pathogenic sequence variants using two-electrode voltage-clamp technique.

Manville RW et al.

Star Protocols, 2025

Conifer metabolite pisiferic acid restores activity in human Kv1.2 potassium channels carrying pathogenic sequence variants.

Manville RW et al.

Iscience, 2025

Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.

Tarnovskaya SI et al.

International Journal of Molecular Sciences, 2025

40724807 (PubMed )
Supplement: ijms-26-06561-s001.zip › ijms-3705358_SupplementaryTable1.xlsx › SupplementaryTable1_upd

Roles of KCNA2 in Neurological Diseases: from Physiology to Pathology.

Xie C et al.

Molecular Neurobiology, 2024

Two epilepsy-associated variants in KCNA2 (KV 1.2) at position H310 oppositely affect channel functional expression.

Mínguez-Viñas T et al.

The Journal of Physiology, 2023

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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."