Varaico: Literature-Extracted Genetic Variants

Gene:KCND2
Variant:p.V404A
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KCND2

NM_012281.3:p.V404A

Associated Papers

KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.

Zhang Y et al.

Human Molecular Genetics, 2021

Exome sequencing identifies de novo gain of function missense mutation in KCND2 in identical twins with autism and seizures that slows potassium channel inactivation.

Lee H et al.

Human Molecular Genetics, 2014

Dynamic coupling of voltage sensor and gate involved in closed-state inactivation of kv4.2 channels.

Barghaan J et al.

The Journal of General Physiology, 2009

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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."