Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S1118C
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CFTR

NM_000492.4:p.S1118C

Associated Papers

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Cell Genomics, 2025

41330381 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39677473 (PubMed )
Supplement: media-1.xlsx › ST3

Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.

McDonald EF et al.

Biorxiv : the Preprint Server for Biology, 2024

37873426 (PubMed )
Supplement: media-4.xlsx › Sheet1

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

McDonald EF et al.

Plos One, 2024

38271453 (PubMed )
Supplement: pone.0297560.s010.xlsx › Supp_Table_3

C FTR variants are associated with chronic bronchitis in smokers.

Saferali A et al.

The European Respiratory Journal, 2022

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

Structural mechanisms of CFTR function and dysfunction.

Hwang TC et al.

The Journal of General Physiology, 2018

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.

Pol A et al.

Nature Genetics, 2018

29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_CFTR

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

External Zn(2+) binding to cysteine-substituted cystic fibrosis transmembrane conductance regulator constructs regulates channel gating and curcumin potentiation.

Wang G et al.

The Febs Journal, 2016

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

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

Wang W et al.

Pflugers Archiv : European Journal of Physiology, 2014

Functional architecture of the CFTR chloride channel.

Linsdell P

Molecular Membrane Biology, 2014

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

Do common in silico tools predict the clinical consequences of amino-acid substitutions in the CFTR gene?

Dorfman R et al.

Clinical Genetics, 2010

Novel residues lining the CFTR chloride channel pore identified by functional modification of introduced cysteines.

Fatehi M et al.

The Journal of Membrane Biology, 2009

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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."