Varaico: Literature-Extracted Genetic Variants

Gene:CLCN1
Variant:p.E232Q
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CLCN1

NM_000083.3:p.E232Q

Associated Papers

Movement of hClC-1 C-termini during common gating and limits on their cytoplasmic location.

Ma L et al.

The Biochemical Journal, 2011

Inter-subunit communication and fast gate integrity are important for common gating in hClC-1.

Cederholm JM et al.

The International Journal of Biochemistry & Cell Biology, 2010

Conservation of chloride channel structure revealed by an inhibitor binding site in ClC-1.

Estévez R et al.

Neuron, 2003

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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."