Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.C1458S
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CFTR

NM_000492.4:p.C1458S

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

Cysteine accessibility probes timing and extent of NBD separation along the dimer interface in gating CFTR channels.

Chaves LA et al.

The Journal of General Physiology, 2015

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

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

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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."