Varaico: Literature-Extracted Genetic Variants

Gene:KCNMA1
Variant:p.H444Q
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KCNMA1

NM_001161352.2:p.H444Q

Associated Papers

Evaluation of four KCNMA1 channelopathy variants on BK channel current under CaV1.2 activation.

Dinsdale RL et al.

Channels (austin, Tex.), 2024

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

Disease-associated KCNMA1 variants decrease circadian clock robustness in channelopathy mouse models.

Dinsdale RL et al.

The Journal of General Physiology, 2023

BK channel properties correlate with neurobehavioral severity in three KCNMA1-linked channelopathy mouse models.

Park SM et al.

Elife, 2022

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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."