Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.E838A
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CFTR

NM_000492.4:p.E838A

Associated Papers

Novel gain-of-function mutants identify a critical region within CFTR membrane-spanning domain 2 controlling cAMP-dependent and ATP-independent channel activation.

Castanier S et al.

Cellular and Molecular Life Sciences : Cmls, 2024

Regulation of activation and processing of the cystic fibrosis transmembrane conductance regulator (CFTR) by a complex electrostatic interaction between the regulatory domain and cytoplasmic loop 3.

Wang G et al.

The Journal of Biological Chemistry, 2012

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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."