Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.T1134A
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CFTR

NM_000492.4:p.T1134A

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

Differential contribution of TM6 and TM12 to the pore of CFTR identified by three sulfonylurea-based blockers.

Cui G et al.

Pflugers Archiv : European Journal of Physiology, 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

Insight in eukaryotic ABC transporter function by mutation analysis.

Frelet A et al.

Febs Letters, 2006

Point mutations in the pore region directly or indirectly affect glibenclamide block of the CFTR chloride channel.

Gupta J et al.

Pflugers Archiv : European Journal of Physiology, 2002

Asymmetric structure of the cystic fibrosis transmembrane conductance regulator chloride channel pore suggested by mutagenesis of the twelfth transmembrane region.

Gupta J et al.

Biochemistry, 2001

Novel pore-lining residues in CFTR that govern permeation and open-channel block.

McDonough S et al.

Neuron, 1994

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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."