Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.T338A
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CFTR

NM_000492.4:p.T338A

Associated Papers

Structural identification of a selectivity filter in CFTR.

Levring J et al.

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

Rescue of Rare CFTR Trafficking Mutants Highlights a Structural Location-Dependent Pattern for Correction.

Zacarias S et al.

International Journal of Molecular Sciences, 2023

36834620 (PubMed )
Supplement: ijms-24-03211-s001.zip › ijms-2071953-supplementary.pdf

Heterogeneous spectrum of CFTR gene mutations in Chinese patients with CAVD and the dilemma of genetic blocking strategy.

Feng J et al.

Reproduction (cambridge, England), 2022

On the relationship between anion binding and chloride conductance in the CFTR anion channel.

Linsdell P

Biochimica Et Biophysica Acta. Biomembranes, 2021

Contribution of the eighth transmembrane segment to the function of the CFTR chloride channel pore.

Negoda A et al.

Cellular and Molecular Life Sciences : Cmls, 2019

Basic and clinical genetic studies on male infertility in Iran during 2000-2016: A review.

Moghbelinejad S et al.

International Journal of Reproductive Biomedicine, 2018

Congenital bilateral absence of the vas deferens as an atypical form of cystic fibrosis: reproductive implications and genetic counseling.

de Souza DAS et al.

Andrology, 2018

Contribution of a leucine residue in the first transmembrane segment to the selectivity filter region in the CFTR chloride channel.

Negoda A et al.

Biochimica Et Biophysica Acta. Biomembranes, 2017

Architecture and functional properties of the CFTR channel pore.

Linsdell P

Cellular and Molecular Life Sciences : Cmls, 2017

The pore architecture of the cystic fibrosis transmembrane conductance regulator channel revealed by co-mutation in pore-forming transmembrane regions.

Qian F et al.

Physiological Research, 2016

Anion conductance selectivity mechanism of the CFTR chloride channel.

Linsdell P

Biochimica Et Biophysica Acta, 2016

Stoichiometry and novel gating mechanism within the cystic fibrosis transmembrane conductance regulator channel.

Qian F et al.

Experimental Physiology, 2014

Relative contribution of different transmembrane segments to the CFTR chloride channel pore.

Wang W et al.

Pflugers Archiv : European Journal of Physiology, 2014

Functional architecture of the CFTR chloride channel.

Linsdell P

Molecular Membrane Biology, 2014

Two salt bridges differentially contribute to the maintenance of cystic fibrosis transmembrane conductance regulator (CFTR) channel function.

Cui G et al.

The Journal of Biological Chemistry, 2013

Differential contribution of TM6 and TM12 to the pore of CFTR identified by three sulfonylurea-based blockers.

Cui G et al.

Pflugers Archiv : European Journal of Physiology, 2012

Divergent CFTR orthologs respond differently to the channel inhibitors CFTRinh-172, glibenclamide, and GlyH-101.

Stahl M et al.

American Journal of Physiology. Cell Physiology, 2012

Atomic model of human cystic fibrosis transmembrane conductance regulator: membrane-spanning domains and coupling interfaces.

Mornon JP et al.

Cellular and Molecular Life Sciences : Cmls, 2008

Evidence for direct CFTR inhibition by CFTR(inh)-172 based on Arg347 mutagenesis.

Caci E et al.

The Biochemical Journal, 2008

A possible role for intracellular GSH in spontaneous reaction of a cysteine (T338C) engineered into the Cystic Fibrosis Transmembrane Conductance Regulator.

Liu X

Biometals : an International Journal on the Role of Metal Ions in Biology, Biochemistry, and Medicine, 2008

Mutations at arginine 352 alter the pore architecture of CFTR.

Cui G et al.

The Journal of Membrane Biology, 2008

Two novel missense and one novel nonsense CFTR mutations in Iranian males with congenital bilateral absence of the vas deferens.

Radpour R et al.

Molecular Human Reproduction, 2006

CFTR: Ligand exchange between a permeant anion ([Au(CN)2]-) and an engineered cysteine (T338C) blocks the pore.

Serrano JR et al.

Biophysical Journal, 2006

Insight in eukaryotic ABC transporter function by mutation analysis.

Frelet A et al.

Febs Letters, 2006

Determination of the functional unit of the cystic fibrosis transmembrane conductance regulator chloride channel. One polypeptide forms one pore.

Zhang ZR et al.

The Journal of Biological Chemistry, 2005

Direct comparison of the functional roles played by different transmembrane regions in the cystic fibrosis transmembrane conductance regulator chloride channel pore.

Ge N et al.

The Journal of Biological Chemistry, 2004

Mutation-induced blocker permeability and multiion block of the CFTR chloride channel pore.

Gong X et al.

The Journal of General Physiology, 2003

CFTR: what's it like inside the pore?

Liu X et al.

Journal of Experimental Zoology. Part A, Comparative Experimental Biology, 2003

Molecular determinants and role of an anion binding site in the external mouth of the CFTR chloride channel pore.

Gong X et al.

The Journal of Physiology, 2003

Mechanism of lonidamine inhibition of the CFTR chloride channel.

Gong X et al.

British Journal of Pharmacology, 2002

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

Tan AL et al.

Archives of Biochemistry and Biophysics, 2002

Molecular determinants of Au(CN)(2)(-) binding and permeability within the cystic fibrosis transmembrane conductance regulator Cl(-) channel pore.

Gong X et al.

The Journal of Physiology, 2002

Point mutations in the pore region directly or indirectly affect glibenclamide block of the CFTR chloride channel.

Gupta J et al.

Pflugers Archiv : European Journal of Physiology, 2002

Asymmetric structure of the cystic fibrosis transmembrane conductance regulator chloride channel pore suggested by mutagenesis of the twelfth transmembrane region.

Gupta J 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

Interaction between permeation and gating in a putative pore domain mutant in the cystic fibrosis transmembrane conductance regulator.

Zhang ZR et al.

Biophysical Journal, 2000

Molecular determinants of anion selectivity in the cystic fibrosis transmembrane conductance regulator chloride channel pore.

Linsdell P et al.

Biophysical Journal, 2000

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

Cystic fibrosis transmembrane conductance regulator. Permeant ions find the pore.

Dawson DC et al.

The Journal of General Physiology, 1997

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

McDonough S et al.

Neuron, 1994

Extent of the selectivity filter conferred by the sixth transmembrane region in the CFTR chloride channel pore.

Gupta J et al.

Molecular Membrane Biology, 0

Molecular study of (TG)m(T)n polymorphisms in Iranian males with congenital bilateral absence of the vas deferens.

Radpour R et al.

Journal of Andrology, 0

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