Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S1347C
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CFTR

NM_000492.4:p.S1347C

Associated Papers

STRUCTURE, GATING, AND REGULATION OF THE CFTR ANION CHANNEL.

Csanády L et al.

Physiological Reviews, 2019

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

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

Mense M et al.

The Embo Journal, 2006

Covalent modification of the nucleotide binding domains of cystic fibrosis transmembrane conductance regulator.

Cotten JF et al.

The Journal of Biological Chemistry, 1998

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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."