Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.D110A
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CFTR

NM_000492.4:p.D110A

Associated Papers

Single-nucleotide polymorphisms in Orai1 associated with atopic dermatitis inhibit protein turnover, decrease calcium entry and disrupt calcium-dependent gene expression.

Yeh YC et al.

Human Molecular Genetics, 2020

External Zn(2+) binding to cysteine-substituted cystic fibrosis transmembrane conductance regulator constructs regulates channel gating and curcumin potentiation.

Wang G et al.

The Febs Journal, 2016

Positioning of extracellular loop 1 affects pore gating of the cystic fibrosis transmembrane conductance regulator.

Infield DT et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2016

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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."