Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.Y120S
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KCNA1

NM_000217.3:p.Y120S

Associated Papers

Reciprocal voltage sensor-to-pore coupling leads to potassium channel C-type inactivation.

Conti L et al.

Scientific Reports, 2016

A Disease Mutation Causing Episodic Ataxia Type I in the S1 Links Directly to the Voltage Sensor and the Selectivity Filter in Kv Channels.

Petitjean D et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2015

An intersubunit interaction between S4-S5 linker and S6 is responsible for the slow off-gating component in Shaker K+ channels.

Batulan Z et al.

The Journal of Biological Chemistry, 2010

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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."