Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.F342C
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CFTR

NM_000492.4:p.F342C

Associated Papers

Structural mechanisms of CFTR function and dysfunction.

Hwang TC et al.

The Journal of General Physiology, 2018

29581173 (PubMed )
Supplement: JGP_201711946_TableS1.pdf

Transmembrane helical interactions in the CFTR channel pore.

Das J et al.

Plos Computational Biology, 2017

28640808 (PubMed )
Supplement: pcbi.1005594.s004.docx

Cysteine scanning of CFTR's first transmembrane segment reveals its plausible roles in gating and permeation.

Gao X et al.

Biophysical Journal, 2013

Changes in accessibility of cytoplasmic substances to the pore associated with activation of the cystic fibrosis transmembrane conductance regulator chloride channel.

El Hiani Y et al.

The Journal of Biological Chemistry, 2010

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

Conformational changes in a pore-lining helix coupled to cystic fibrosis transmembrane conductance regulator channel gating.

Beck EJ et al.

The Journal of Biological Chemistry, 2008

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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."