Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K1250M
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CFTR

NM_000492.4:p.K1250M

Associated Papers

Altering intracellular pH reveals the kinetic basis of intraburst gating in the CFTR Cl- channel.

Chen JH et al.

The Journal of Physiology, 2017

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

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

Distinct Mg(2+)-dependent steps rate limit opening and closing of a single CFTR Cl(-) channel.

Dousmanis AG et al.

The Journal of General Physiology, 2002

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

Control of CFTR channel gating by phosphorylation and nucleotide hydrolysis.

Gadsby DC et al.

Physiological Reviews, 1999

Fluoride stimulates cystic fibrosis transmembrane conductance regulator Cl- channel activity.

Berger HA et al.

The American Journal of Physiology, 1998

Function of the R domain in the cystic fibrosis transmembrane conductance regulator chloride channel.

Ma J et al.

The Journal of Biological Chemistry, 1997

CFTR: domains, structure, and function.

Devidas S et al.

Journal of Bioenergetics and Biomembranes, 1997

Effect of cystic fibrosis-associated mutations in the fourth intracellular loop of cystic fibrosis transmembrane conductance regulator.

Cotten JF et al.

The Journal of Biological Chemistry, 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

The two nucleotide-binding domains of cystic fibrosis transmembrane conductance regulator (CFTR) have distinct functions in controlling channel activity.

Carson MR et al.

The Journal of Biological Chemistry, 1995

Separation of drug transport and chloride channel functions of the human multidrug resistance P-glycoprotein.

Gill DR et al.

Cell, 1992

Effect of ATP-sensitive K+ channel regulators on cystic fibrosis transmembrane conductance regulator chloride currents.

Sheppard DN et al.

The Journal of General Physiology, 1992

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

A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator.

Kälin N et al.

Human Mutation, 1992

Nucleoside triphosphates are required to open the CFTR chloride channel.

Anderson MP et al.

Cell, 1991

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

Cystic fibrosis. The mutant protein responds.

Wine JJ

Nature, 0

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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."