Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S1347G
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CFTR

NM_000492.4:p.S1347G

Associated Papers

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

Optimization of the degenerated interfacial ATP binding site improves the function of disease-related mutant cystic fibrosis transmembrane conductance regulator (CFTR) channels.

Tsai MF et al.

The Journal of Biological Chemistry, 2010

Potentiation of disease-associated cystic fibrosis transmembrane conductance regulator mutants by hydrolyzable ATP analogs.

Miki H et al.

The Journal of Biological Chemistry, 2010

Stable ATP binding mediated by a partial NBD dimer of the CFTR chloride channel.

Tsai MF et al.

The Journal of General Physiology, 2010

State-dependent modulation of CFTR gating by pyrophosphate.

Tsai MF et al.

The Journal of General Physiology, 2009

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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."