Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.F337S
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CFTR

NM_000492.4:p.F337S

Associated Papers

Novel gain-of-function mutants identify a critical region within CFTR membrane-spanning domain 2 controlling cAMP-dependent and ATP-independent channel activation.

Castanier S et al.

Cellular and Molecular Life Sciences : Cmls, 2024

Correction: Role of Hydrophobic Amino-Acid Side-Chains in the Narrow Selectivity Filter of the CFTR Chloride Channel Pore in Conductance and Selectivity.

Linsdell P

The Journal of Membrane Biology, 2024

Role of Hydrophobic Amino-Acid Side-Chains in the Narrow Selectivity Filter of the CFTR Chloride Channel Pore in Conductance and Selectivity.

Linsdell P

The Journal of Membrane Biology, 2023

Molecular mechanisms of cystic fibrosis - how mutations lead to misfunction and guide therapy.

Farinha CM et al.

Bioscience Reports, 2022

Monovalent: Divalent Anion Selectivity in the CFTR Channel Pore.

Linsdell P

Cell Biochemistry and Biophysics, 2021

Contribution of a leucine residue in the first transmembrane segment to the selectivity filter region in the CFTR chloride channel.

Negoda A et al.

Biochimica Et Biophysica Acta. Biomembranes, 2017

Architecture and functional properties of the CFTR channel pore.

Linsdell P

Cellular and Molecular Life Sciences : Cmls, 2017

Structural Changes Fundamental to Gating of the Cystic Fibrosis Transmembrane Conductance Regulator Anion Channel Pore.

Linsdell P

Advances in Experimental Medicine and Biology, 2017

Anion conductance selectivity mechanism of the CFTR chloride channel.

Linsdell P

Biochimica Et Biophysica Acta, 2016

Location of a permeant anion binding site in the cystic fibrosis transmembrane conductance regulator chloride channel pore.

Rubaiy HN et al.

The Journal of Physiological Sciences : Jps, 2015

Functional architecture of the CFTR chloride channel.

Linsdell P

Molecular Membrane Biology, 2014

Mutation-induced blocker permeability and multiion block of the CFTR chloride channel pore.

Gong X et al.

The Journal of General Physiology, 2003

Molecular determinants and role of an anion binding site in the external mouth of the CFTR chloride channel pore.

Gong X et al.

The Journal of Physiology, 2003

Mechanism of lonidamine inhibition of the CFTR chloride channel.

Gong X et al.

British Journal of Pharmacology, 2002

Molecular determinants of Au(CN)(2)(-) binding and permeability within the cystic fibrosis transmembrane conductance regulator Cl(-) channel pore.

Gong X et al.

The Journal of Physiology, 2002

Asymmetric structure of the cystic fibrosis transmembrane conductance regulator chloride channel pore suggested by mutagenesis of the twelfth transmembrane region.

Gupta J et al.

Biochemistry, 2001

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

Molecular determinants of anion selectivity in the cystic fibrosis transmembrane conductance regulator chloride channel pore.

Linsdell P et al.

Biophysical Journal, 2000

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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."