Varaico: Literature-Extracted Genetic Variants

Gene:KCNB1
Variant:p.S586A
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KCNB1

NM_004975.4:p.S586A

Associated Papers

Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant.

Hawkins NA et al.

Neurobiology of Disease, 2021

Clustered Kv2.1 decreases dopamine transporter activity and internalization.

Lebowitz JJ et al.

The Journal of Biological Chemistry, 2019

Remodeling neuronal ER-PM junctions is a conserved nonconducting function of Kv2 plasma membrane ion channels.

Kirmiz M et al.

Molecular Biology of the Cell, 2018

Specific sorting and post-Golgi trafficking of dendritic potassium channels in living neurons.

Jensen CS et al.

The Journal of Biological Chemistry, 2014

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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."