Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K892Q
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CFTR

NM_000492.4:p.K892Q

Associated Papers

The cystic fibrosis transmembrane conductance regulator is an extracellular chloride sensor.

Broadbent SD et al.

Pflugers Archiv : European Journal of Physiology, 2015

Pseudohalide anions reveal a novel extracellular site for potentiators to increase CFTR function.

Li MS et al.

British Journal of Pharmacology, 2012

Evidence that extracellular anions interact with a site outside the CFTR chloride channel pore to modify channel properties.

Zhou JJ et al.

Canadian Journal of Physiology and Pharmacology, 2009

Identification of positive charges situated at the outer mouth of the CFTR chloride channel pore.

Zhou JJ et al.

Pflugers Archiv : European Journal of Physiology, 2008

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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."