Varaico: Literature-Extracted Genetic Variants

Gene:KCNMA1
Variant:p.E656A
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KCNMA1

NM_001161352.2:p.E656A

Associated Papers

BK channel activity in skin fibroblasts from patients with neurological disorder.

Dinsdale RL et al.

Channels (austin, Tex.), 2025

Structural mapping of patient-associated KCNMA1 gene variants.

Moldenhauer HJ et al.

Biophysical Journal, 2024

Structural mapping of patient-associated KCNMA1 gene variants.

Moldenhauer HJ et al.

Biorxiv : the Preprint Server for Biology, 2023

An emerging spectrum of variants and clinical features in KCNMA1-linked channelopathy.

Miller JP et al.

Channels (austin, Tex.), 2021

KCNMA1-linked channelopathy.

Bailey CS et al.

The Journal of General Physiology, 2019

De novo BK channel variant causes epilepsy by affecting voltage gating but not Ca2+ sensitivity.

Li X et al.

European Journal of Human Genetics : Ejhg, 2018

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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."