Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.T1246N
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CFTR

NM_000492.4:p.T1246N

Associated Papers

CFTR function, pathology and pharmacology at single-molecule resolution.

Levring J et al.

Nature, 2023

36949202 (PubMed )
Supplement: 41586_2023_5854_MOESM4_ESM.pdf

STRUCTURE, GATING, AND REGULATION OF THE CFTR ANION CHANNEL.

Csanády L et al.

Physiological Reviews, 2019

Obligate coupling of CFTR pore opening to tight nucleotide-binding domain dimerization.

Mihályi C et al.

Elife, 2016

Timing of CFTR pore opening and structure of its transition state.

Sorum B et al.

Cell, 2015

Nonintegral stoichiometry in CFTR gating revealed by a pore-lining mutation.

Jih KY et al.

The Journal of General Physiology, 2012

Mutant cycles at CFTR's non-canonical ATP-binding site support little interface separation during gating.

Szollosi A et al.

The Journal of General Physiology, 2011

Model of the cAMP activation of chloride transport by CFTR channel and the mechanism of potentiators.

Moran O

Journal of Theoretical Biology, 2010

Review. ATP hydrolysis-driven gating in cystic fibrosis transmembrane conductance regulator.

Muallem D et al.

Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences, 2009

CFTR channel opening by ATP-driven tight dimerization of its nucleotide-binding domains.

Vergani P et al.

Nature, 2005

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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."