Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S1118A
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CFTR

NM_000492.4:p.S1118A

Associated Papers

Relative contribution of different transmembrane segments to the CFTR chloride channel pore.

Wang W et al.

Pflugers Archiv : European Journal of Physiology, 2014

Novel residues lining the CFTR chloride channel pore identified by functional modification of introduced cysteines.

Fatehi M et al.

The Journal of Membrane Biology, 2009

Relationship between anion binding and anion permeability revealed by mutagenesis within the cystic fibrosis transmembrane conductance regulator chloride channel pore.

Linsdell P

The Journal of Physiology, 2001

Interaction between permeation and gating in a putative pore domain mutant in the cystic fibrosis transmembrane conductance regulator.

Zhang ZR et al.

Biophysical Journal, 2000

Novel pore-lining residues in CFTR that govern permeation and open-channel block.

McDonough S et al.

Neuron, 1994

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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."