Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K335E
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CFTR

NM_000492.4:p.K335E

Associated Papers

Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.

McDonald EF et al.

Biorxiv : the Preprint Server for Biology, 2024

37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

McDonald EF et al.

Plos One, 2024

38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2

Identification of positive charges situated at the outer mouth of the CFTR chloride channel pore.

Zhou JJ et al.

Pflugers Archiv : European Journal of Physiology, 2008

Insight in eukaryotic ABC transporter function by mutation analysis.

Frelet A et al.

Febs Letters, 2006

Beta-adrenergic receptors couple to CFTR chloride channels of intercalated mitochondria-rich cells in the heterocellular toad skin epithelium.

Larsen EH et al.

Biochimica Et Biophysica Acta, 2003

Biochemical implications of sequence comparisons of the cystic fibrosis transmembrane conductance regulator.

Tan AL et al.

Archives of Biochemistry and Biophysics, 2002

Voltage-sensitive gating induced by a mutation in the fifth transmembrane domain of CFTR.

Zhang ZR et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2002

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

Zou X et al.

Biochemistry, 2001

Relationship between anion binding and anion permeability revealed by mutagenesis within the cystic fibrosis transmembrane conductance regulator chloride channel pore.

Linsdell P

The Journal of Physiology, 2001

Direct comparison of NPPB and DPC as probes of CFTR expressed in Xenopus oocytes.

Zhang ZR et al.

The Journal of Membrane Biology, 2000

Structural and ionic determinants of 5-nitro-2-(3-phenylprophyl-amino)-benzoic acid block of the CFTR chloride channel.

Walsh KB et al.

British Journal of Pharmacology, 1999

Structure and function of the CFTR chloride channel.

Sheppard DN et al.

Physiological Reviews, 1999

Non-pore lining amino acid side chains influence anion selectivity of the human CFTR Cl- channel expressed in mammalian cell lines.

Linsdell P et al.

The Journal of Physiology, 1998

Cl- transport by cystic fibrosis transmembrane conductance regulator (CFTR) contributes to the inhibition of epithelial Na+ channels (ENaCs) in Xenopus oocytes co-expressing CFTR and ENaC.

Briel M et al.

The Journal of Physiology, 1998

Adenosine triphosphate-dependent asymmetry of anion permeation in the cystic fibrosis transmembrane conductance regulator chloride channel.

Linsdell P et al.

The Journal of General Physiology, 1998

Topological model of membrane domain of the cystic fibrosis transmembrane conductance regulator.

Gallet X et al.

Journal of Molecular Graphics & Modelling, 1998

Cystic fibrosis transmembrane conductance regulator (CFTR) anion binding as a probe of the pore.

Mansoura MK et al.

Biophysical Journal, 1998

Probing the structural and functional domains of the CFTR chloride channel.

Akabas MH et al.

Journal of Bioenergetics and Biomembranes, 1997

Locating the anion-selectivity filter of the cystic fibrosis transmembrane conductance regulator (CFTR) chloride channel.

Cheung M et al.

The Journal of General Physiology, 1997

Function of Xenopus cystic fibrosis transmembrane conductance regulator (CFTR) Cl channels and use of human-Xenopus chimeras to investigate the pore properties of CFTR.

Price MP et al.

The Journal of Biological Chemistry, 1996

Identification of cystic fibrosis transmembrane conductance regulator channel-lining residues in and flanking the M6 membrane-spanning segment.

Cheung M et al.

Biophysical Journal, 1996

Mutations in the putative pore-forming domain of CFTR do not change anion selectivity of the cAMP activated Cl- conductance.

Hipper A et al.

Febs Letters, 1995

Molecular basis of epithelial Cl channels.

Fong P et al.

The Journal of Membrane Biology, 1995

Novel pore-lining residues in CFTR that govern permeation and open-channel block.

McDonough S et al.

Neuron, 1994

Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene.

Cuppens H et al.

Genomics, 1993

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

The molecular biology of chloride channels.

Riordan JR

Current Opinion in Nephrology and Hypertension, 1992

Chloride channels in the apical membrane of normal and cystic fibrosis airway and intestinal epithelia.

Anderson MP et al.

The American Journal of Physiology, 1992

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