Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S1141C
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CFTR

NM_000492.4:p.S1141C

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

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

Negoda A et al.

Cellular and Molecular Life Sciences : Cmls, 2018

Structural mechanisms of CFTR function and dysfunction.

Hwang TC et al.

The Journal of General Physiology, 2018

Transmembrane helical interactions in the CFTR channel pore.

Das J et al.

Plos Computational Biology, 2017

Conformational changes opening and closing the CFTR chloride channel: insights from cysteine scanning mutagenesis.

El Hiani Y et al.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2014

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

Functional architecture of the CFTR chloride channel.

Linsdell P

Molecular Membrane Biology, 2014

Structural basis for the channel function of a degraded ABC transporter, CFTR (ABCC7).

Bai Y et al.

The Journal of General Physiology, 2011

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

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

Wang W et al.

The Journal of General Physiology, 2011

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

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