Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.W1145C
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CFTR

NM_000492.4:p.W1145C

Associated Papers

Cryo-EM Visualization of an Active High Open Probability CFTR Anion Channel.

Fay JF et al.

Biochemistry, 2018

Structural mechanisms of CFTR function and dysfunction.

Hwang TC et al.

The Journal of General Physiology, 2018

29581173 (PubMed )
Supplement: JGP_201711946_TableS1.pdf

Transmembrane helical interactions in the CFTR channel pore.

Das J et al.

Plos Computational Biology, 2017

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

The cystic fibrosis V232D mutation inhibits CFTR maturation by disrupting a hydrophobic pocket rather than formation of aberrant interhelical hydrogen bonds.

Loo TW et al.

Biochemical Pharmacology, 2014

Functional architecture of the CFTR chloride channel.

Linsdell P

Molecular Membrane Biology, 2014

Cysteine scanning of CFTR's first transmembrane segment reveals its plausible roles in gating and permeation.

Gao X et al.

Biophysical Journal, 2013

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

The V510D suppressor mutation stabilizes DeltaF508-CFTR at the cell surface.

Loo TW et al.

Biochemistry, 2010

Atomic model of human cystic fibrosis transmembrane conductance regulator: membrane-spanning domains and coupling interfaces.

Mornon JP et al.

Cellular and Molecular Life Sciences : Cmls, 2008

Correctors promote folding of the CFTR in the endoplasmic reticulum.

Loo TW et al.

The Biochemical Journal, 2008

The chemical chaperone CFcor-325 repairs folding defects in the transmembrane domains of CFTR-processing mutants.

Loo TW et al.

The Biochemical Journal, 2006

The DeltaF508 mutation disrupts packing of the transmembrane segments of the cystic fibrosis transmembrane conductance regulator.

Chen EY 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."