Varaico: Literature-Extracted Genetic Variants

Gene:KCNJ2
Variant:p.R148K
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KCNJ2

NM_000891.3:p.R148K

Associated Papers

Andersen cardiodysrhythmic periodic paralysis with KCNJ2 mutations: a novel mutation in the pore selectivity filter residue.

Lim BC et al.

Journal of Child Neurology, 2010

The 4'lysine in the putative channel lining domain affects desensitization but not the single-channel conductance of recombinant homomeric 5-HT3A receptors.

Gunthorpe MJ et al.

The Journal of Physiology, 2000

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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."