Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K95Q
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CFTR

NM_000492.4:p.K95Q

Associated Papers

Diversity of CFTR variants across ancestries characterized using 454,727 UK biobank whole exome sequences.

Ideozu JE et al.

Genome Medicine, 2024

38515211 (PubMed )
Supplement: 13073_2024_1316_MOESM1_ESM.xlsx › Table_S1A

Functionally additive fixed positive and negative charges in the CFTR channel pore control anion binding and conductance.

Linsdell P et al.

The Journal of Biological Chemistry, 2022

Two positively charged amino acid side-chains in the inner vestibule of the CFTR channel pore play analogous roles in controlling anion binding and anion conductance.

Linsdell P et al.

Cellular and Molecular Life Sciences : Cmls, 2021

On the relationship between anion binding and chloride conductance in the CFTR anion channel.

Linsdell P

Biochimica Et Biophysica Acta. Biomembranes, 2021

Structural mechanisms of CFTR function and dysfunction.

Hwang TC et al.

The Journal of General Physiology, 2018

Architecture and functional properties of the CFTR channel pore.

Linsdell P

Cellular and Molecular Life Sciences : Cmls, 2017

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

Anion conductance selectivity mechanism of the CFTR chloride channel.

Linsdell P

Biochimica Et Biophysica Acta, 2016

Interactions between permeant and blocking anions inside the CFTR chloride channel pore.

Linsdell P

Biochimica Et Biophysica Acta, 2015

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

State-dependent blocker interactions with the CFTR chloride channel: implications for gating the pore.

Linsdell P

Pflugers Archiv : European Journal of Physiology, 2014

Tuning of CFTR chloride channel function by location of positive charges within the pore.

El Hiani Y et al.

Biophysical Journal, 2012

Regulation of CFTR chloride channel macroscopic conductance by extracellular bicarbonate.

Li MS et al.

American Journal of Physiology. Cell Physiology, 2011

Mechanism of direct bicarbonate transport by the CFTR anion channel.

Tang L et al.

Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society, 2009

Molecular mechanism of arachidonic acid inhibition of the CFTR chloride channel.

Zhou JJ et al.

European Journal of Pharmacology, 2007

Identification of a second blocker binding site at the cytoplasmic mouth of the cystic fibrosis transmembrane conductance regulator chloride channel pore.

St Aubin CN et al.

Molecular Pharmacology, 2007

Direct and indirect effects of mutations at the outer mouth of the cystic fibrosis transmembrane conductance regulator chloride channel pore.

Zhou JJ et al.

The Journal of Membrane Biology, 2007

Location of a common inhibitor binding site in the cytoplasmic vestibule of the cystic fibrosis transmembrane conductance regulator chloride channel pore.

Linsdell P

The Journal of Biological Chemistry, 2005

Direct comparison of the functional roles played by different transmembrane regions in the cystic fibrosis transmembrane conductance regulator chloride channel pore.

Ge N et al.

The Journal of Biological Chemistry, 2004

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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."