Varaico: Literature-Extracted Genetic Variants

Gene:CLCNKA
Variant:p.V166E
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CLCNKA

NM_004070.4:p.V166E

Associated Papers

Activation of renal ClC-K chloride channels depends on an intact N terminus of their accessory subunit barttin.

Wojciechowski D et al.

The Journal of Biological Chemistry, 2018

Regulatory-auxiliary subunits of CLC chloride channel-transport proteins.

Barrallo-Gimeno A et al.

The Journal of Physiology, 2015

Tryptophan Scanning Mutagenesis Identifies the Molecular Determinants of Distinct Barttin Functions.

Wojciechowski D et al.

The Journal of Biological Chemistry, 2015

Characterization of the mouse ClC-K1/Barttin chloride channel.

L'Hoste S et al.

Biochimica Et Biophysica Acta, 2013

Cell biology and physiology of CLC chloride channels and transporters.

Stauber T et al.

Comprehensive Physiology, 2012

Barttin activates ClC-K channel function by modulating gating.

Fischer M et al.

Journal of the American Society of Nephrology : Jasn, 2010

Role of kidney chloride channels in health and disease.

Veizis IE et al.

Pediatric Nephrology (berlin, Germany), 2007

CLC chloride channels and transporters: from genes to protein structure, pathology and physiology.

Jentsch TJ

Critical Reviews in Biochemistry and Molecular Biology, 0

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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."