Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.T339A
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CFTR

NM_000492.4:p.T339A

Associated Papers

The pore architecture of the cystic fibrosis transmembrane conductance regulator channel revealed by co-mutation in pore-forming transmembrane regions.

Qian F et al.

Physiological Research, 2016

Stoichiometry and novel gating mechanism within the cystic fibrosis transmembrane conductance regulator channel.

Qian F et al.

Experimental Physiology, 2014

Differential contribution of TM6 and TM12 to the pore of CFTR identified by three sulfonylurea-based blockers.

Cui G et al.

Pflugers Archiv : European Journal of Physiology, 2012

A 14-amino acid sequence with a beta-turn structure is required for apical membrane sorting of the rat ileal bile acid transporter.

Sun AQ et al.

The Journal of Biological Chemistry, 2003

Non-pore lining amino acid side chains influence anion selectivity of the human CFTR Cl- channel expressed in mammalian cell lines.

Linsdell P et al.

The Journal of Physiology, 1998

Cystic fibrosis transmembrane conductance regulator. Permeant ions find the pore.

Dawson DC et al.

The Journal of General Physiology, 1997

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

McDonough S et al.

Neuron, 1994

Extent of the selectivity filter conferred by the sixth transmembrane region in the CFTR chloride channel pore.

Gupta J et al.

Molecular Membrane 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."