Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K1250R
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CFTR

NM_000492.4:p.K1250R

Associated Papers

Estimating the true stability of the prehydrolytic outward-facing state in an ABC protein.

Simon MA et al.

Elife, 2023

Potentiation of the cystic fibrosis transmembrane conductance regulator by VX-770 involves stabilization of the pre-hydrolytic, O1 state.

Langron E et al.

British Journal of Pharmacology, 2018

Asymmetry of movements in CFTR's two ATP sites during pore opening serves their distinct functions.

Sorum B et al.

Elife, 2017

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

Mihályi C et al.

Elife, 2016

New structural insights into the gating movements of CFTR.

Puljung MC

The Journal of General Physiology, 2015

Cysteine accessibility probes timing and extent of NBD separation along the dimer interface in gating CFTR channels.

Chaves LA et al.

The Journal of General Physiology, 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

Involvement of F1296 and N1303 of CFTR in induced-fit conformational change in response to ATP binding at NBD2.

Szollosi A et al.

The Journal of General Physiology, 2010

Strict coupling between CFTR's catalytic cycle and gating of its Cl- ion pore revealed by distributions of open channel burst durations.

Csanády L et al.

Proceedings of the National Academy of Sciences of the United States of America, 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

Thermodynamics of CFTR channel gating: a spreading conformational change initiates an irreversible gating cycle.

Csanády L et al.

The Journal of General Physiology, 2006

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

Vergani P et al.

Nature, 2005

CFTR: the nucleotide binding folds regulate the accessibility and stability of the activated state.

Wilkinson DJ et al.

The Journal of General Physiology, 1996

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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."