Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.V510A
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CFTR

NM_000492.4:p.V510A

Associated Papers

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

Contribution of the eighth transmembrane segment to the function of the CFTR chloride channel pore.

Negoda A et al.

Cellular and Molecular Life Sciences : Cmls, 2019

A defective flexible loop contributes to the processing and gating defects of the predominant cystic fibrosis-causing mutation.

Chen X et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019

Conformational change of the extracellular parts of the CFTR protein during channel gating.

Negoda A et al.

Cellular and Molecular Life Sciences : Cmls, 2018

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

Cytoplasmic pathway followed by chloride ions to enter the CFTR channel pore.

El Hiani Y et al.

Cellular and Molecular Life Sciences : Cmls, 2016

Spatial positioning of CFTR's pore-lining residues affirms an asymmetrical contribution of transmembrane segments to the anion permeation pathway.

Gao X et al.

The Journal of General Physiology, 2016

Correction to Molecular Basis for Fe(III)-Independent Curcumin Potentiation of Cystic Fibrosis Transmembrane Conductance Regulator Activity.

Wang G

Biochemistry, 2015

Functional Architecture of the Cytoplasmic Entrance to the Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channel Pore.

El Hiani Y et al.

The Journal of Biological Chemistry, 2015

Molecular Basis for Fe(III)-Independent Curcumin Potentiation of Cystic Fibrosis Transmembrane Conductance Regulator Activity.

Wang G

Biochemistry, 2015

Metal bridges illuminate transmembrane domain movements during gating of the cystic fibrosis transmembrane conductance regulator chloride channel.

El Hiani Y et al.

The Journal of Biological Chemistry, 2014

Interaction between 2 extracellular loops influences the activity of the cystic fibrosis transmembrane conductance regulator chloride channel.

Broadbent SD et al.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2014

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

Wang W et al.

Pflugers Archiv : European Journal of Physiology, 2014

Two salt bridges differentially contribute to the maintenance of cystic fibrosis transmembrane conductance regulator (CFTR) channel function.

Cui G et al.

The Journal of Biological Chemistry, 2013

Regulation of activation and processing of the cystic fibrosis transmembrane conductance regulator (CFTR) by a complex electrostatic interaction between the regulatory domain and cytoplasmic loop 3.

Wang G et al.

The Journal of Biological Chemistry, 2012

Relative movements of transmembrane regions at the outer mouth of the cystic fibrosis transmembrane conductance regulator channel pore during channel gating.

Wang W et al.

The Journal of Biological Chemistry, 2012

Role of the juxtamembrane region of cytoplasmic loop 3 in the gating and conductance of the cystic fibrosis transmembrane conductance regulator chloride channel.

El Hiani Y et al.

Biochemistry, 2012

Conformational change opening the CFTR chloride channel pore coupled to ATP-dependent gating.

Wang W et al.

Biochimica Et Biophysica Acta, 2012

Functional arrangement of the 12th transmembrane region in the CFTR chloride channel pore based on functional investigation of a cysteine-less CFTR variant.

Qian F et al.

Pflugers Archiv : European Journal of Physiology, 2011

Functional differences in pore properties between wild-type and cysteine-less forms of the CFTR chloride channel.

Holstead RG et al.

The Journal of Membrane Biology, 2011

Alignment of transmembrane regions in the cystic fibrosis transmembrane conductance regulator chloride channel pore.

Wang W et al.

The Journal of General Physiology, 2011

Benzbromarone stabilizes ΔF508 CFTR at the cell surface.

Loo TW et al.

Biochemistry, 2011

21520952 (PubMed )
Supplement: bi2004813_si_001.pdf

The inhibition mechanism of non-phosphorylated Ser768 in the regulatory domain of cystic fibrosis transmembrane conductance regulator.

Wang G

The Journal of Biological Chemistry, 2011

State-dependent regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gating by a high affinity Fe3+ bridge between the regulatory domain and cytoplasmic loop 3.

Wang G

The Journal of Biological Chemistry, 2010

Changes in accessibility of cytoplasmic substances to the pore associated with activation of the cystic fibrosis transmembrane conductance regulator chloride channel.

El Hiani Y et al.

The Journal of Biological Chemistry, 2010

Dual roles of the sixth transmembrane segment of the CFTR chloride channel in gating and permeation.

Bai Y et al.

The Journal of General Physiology, 2010

Regulation of conductance by the number of fixed positive charges in the intracellular vestibule of the CFTR chloride channel pore.

Zhou JJ et al.

The Journal of General Physiology, 2010

ATP-independent CFTR channel gating and allosteric modulation by phosphorylation.

Wang W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2010

Cysteine-independent inhibition of the CFTR chloride channel by the cysteine-reactive reagent sodium (2-sulphonatoethyl) methanethiosulphonate.

Li MS et al.

British Journal of Pharmacology, 2009

Processing mutations disrupt interactions between the nucleotide binding and transmembrane domains of P-glycoprotein and the cystic fibrosis transmembrane conductance regulator (CFTR).

Loo TW et al.

The Journal of Biological Chemistry, 2008

Correctors promote maturation of cystic fibrosis transmembrane conductance regulator (CFTR)-processing mutants by binding to the protein.

Wang Y et al.

The Journal of Biological Chemistry, 2007

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