Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.T1142A
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CFTR

NM_000492.4:p.T1142A

Associated Papers

Allosteric inhibition of CFTR gating by CFTRinh-172 binding in the pore.

Gao X et al.

Nature Communications, 2024

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

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

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

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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."