Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.D1370N
Back to variants list

CFTR

NM_000492.4:p.D1370N

Associated Papers

Structural basis for CFTR inhibition by CFTRinh-172.

Young PG et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

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

Simon MA et al.

Elife, 2023

Molecular pathology of the R117H cystic fibrosis mutation is explained by loss of a hydrogen bond.

Simon MA et al.

Elife, 2021

Functional stability of CFTR depends on tight binding of ATP at its degenerate ATP-binding site.

Yeh HI et al.

The Journal of Physiology, 2021

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

Csanády L et al.

Physiological Reviews, 2019

Potentiation of the cystic fibrosis transmembrane conductance regulator Cl- channel by ivacaftor is temperature independent.

Wang Y et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2018

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

Structural mechanisms of CFTR function and dysfunction.

Hwang TC et al.

The Journal of General Physiology, 2018

A common mechanism for CFTR potentiators.

Yeh HI et al.

The Journal of General Physiology, 2017

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

Sorum B et al.

Elife, 2017

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

Sorum B et al.

Cell, 2015

Modulation of CFTR gating by permeant ions.

Yeh HI et al.

The Journal of General Physiology, 2015

ATP and AMP mutually influence their interaction with the ATP-binding cassette (ABC) adenylate kinase cystic fibrosis transmembrane conductance regulator (CFTR) at separate binding sites.

Randak CO et al.

The Journal of Biological Chemistry, 2013

Demonstration of phosphoryl group transfer indicates that the ATP-binding cassette (ABC) transporter cystic fibrosis transmembrane conductance regulator (CFTR) exhibits adenylate kinase activity.

Randak CO et al.

The Journal of Biological Chemistry, 2012

State-dependent regulation of cystic fibrosis transmembrane conductance regulator (CFTR) gating by a high affinity Fe3+ bridge between the regulatory domain and cytoplasmic loop 3.

Wang G

The Journal of Biological Chemistry, 2010

On the mechanism of CFTR inhibition by a thiazolidinone derivative.

Kopeikin Z et al.

The Journal of General Physiology, 2010

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

Direct sensing of intracellular pH by the cystic fibrosis transmembrane conductance regulator (CFTR) Cl- channel.

Chen JH et al.

The Journal of Biological Chemistry, 2009

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

A mutation in CFTR modifies the effects of the adenylate kinase inhibitor Ap5A on channel gating.

Dong Q et al.

Biophysical Journal, 2008

Insight in eukaryotic ABC transporter function by mutation analysis.

Frelet A et al.

Febs Letters, 2006

CFTR gating I: Characterization of the ATP-dependent gating of a phosphorylation-independent CFTR channel (DeltaR-CFTR).

Bompadre SG et al.

The Journal of General Physiology, 2005

CFTR gating II: Effects of nucleotide binding on the stability of open states.

Bompadre SG et al.

The Journal of General Physiology, 2005

A heteromeric complex of the two nucleotide binding domains of cystic fibrosis transmembrane conductance regulator (CFTR) mediates ATPase activity.

Kidd JF et al.

The Journal of Biological Chemistry, 2004

An intrinsic adenylate kinase activity regulates gating of the ABC transporter CFTR.

Randak C et al.

Cell, 2003

On the mechanism of MgATP-dependent gating of CFTR Cl- channels.

Vergani P et al.

The Journal of General Physiology, 2003

Down-regulation of volume-sensitive Cl- channels by CFTR is mediated by the second nucleotide-binding domain.

Ando-Akatsuka Y et al.

Pflugers Archiv : European Journal of Physiology, 2002

ATP hydrolysis-coupled gating of CFTR chloride channels: structure and function.

Zou X et al.

Biochemistry, 2001

Regulation of Cl-/ HCO3- exchange by cystic fibrosis transmembrane conductance regulator expressed in NIH 3T3 and HEK 293 cells.

Lee MG et al.

The Journal of Biological Chemistry, 1999

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

Wilkinson DJ et al.

The Journal of General Physiology, 1996

Epitope tagging permits cell surface detection of functional CFTR.

Howard M et al.

The American Journal of Physiology, 1995

Conformational states of CFTR associated with channel gating: the role ATP binding and hydrolysis.

Gunderson KL et al.

Cell, 1995

Regulation by ATP and ADP of CFTR chloride channels that contain mutant nucleotide-binding domains.

Anderson MP et al.

Science (new York, N.y.), 1992

Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2.

Gregory RJ et al.

Molecular and Cellular Biology, 1991

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."