Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.C225S
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CFTR

NM_000492.4:p.C225S

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

CFTR function, pathology and pharmacology at single-molecule resolution.

Levring J et al.

Nature, 2023

Functional differences in pore properties between wild-type and cysteine-less forms of the CFTR chloride channel.

Holstead RG et al.

The Journal of Membrane Biology, 2011

Cystic fibrosis transmembrane conductance regulator: using differential reactivity toward channel-permeant and channel-impermeant thiol-reactive probes to test a molecular model for the pore.

Alexander C et al.

Biochemistry, 2009

In vivo phosphorylation of CFTR promotes formation of a nucleotide-binding domain heterodimer.

Mense M et al.

The Embo Journal, 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

The DeltaF508 mutation disrupts packing of the transmembrane segments of the cystic fibrosis transmembrane conductance regulator.

Chen EY et al.

The Journal of Biological Chemistry, 2004

Polar residues in membrane domains of proteins: molecular basis for helix-helix association in a mutant CFTR transmembrane segment.

Partridge AW et al.

Biochemistry, 2002

Intracellular cysteines of the cystic fibrosis transmembrane conductance regulator (CFTR) modulate channel gating.

Ketchum CJ et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2002

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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."