Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.H1350Q
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CFTR

NM_000492.4:p.H1350Q

Associated Papers

Cdr1p highlights the role of the non-hydrolytic ATP-binding site in driving drug translocation in asymmetric ABC pumps.

Banerjee A et al.

Biochimica Et Biophysica Acta. Biomembranes, 2020

Disease-relevant mutations alter amino acid co-evolution networks in the second nucleotide binding domain of CFTR.

Ivey G et al.

Plos One, 2020

Structure and function of the CFTR chloride channel.

Sheppard DN et al.

Physiological Reviews, 1999

Control of CFTR channel gating by phosphorylation and nucleotide hydrolysis.

Gadsby DC et al.

Physiological Reviews, 1999

Structural and functional similarities between the nucleotide-binding domains of CFTR and GTP-binding proteins.

Carson MR et al.

Biophysical Journal, 1995

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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."