Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.A357P
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CFTR

NM_000492.4:p.A357P

Associated Papers

Correctors of ΔF508 CFTR restore global conformational maturation without thermally stabilizing the mutant protein.

He L et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2013

Allosteric modulation balances thermodynamic stability and restores function of ΔF508 CFTR.

Aleksandrov AA et al.

Journal of Molecular Biology, 2012

Regulatory insertion removal restores maturation, stability and function of DeltaF508 CFTR.

Aleksandrov AA et al.

Journal of Molecular Biology, 2010

Restoration of domain folding and interdomain assembly by second-site suppressors of the DeltaF508 mutation in CFTR.

He L et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2010

Phenylalanine-508 mediates a cytoplasmic-membrane domain contact in the CFTR 3D structure crucial to assembly and channel function.

Serohijos AW et al.

Proceedings of the National Academy of Sciences of the United States of America, 2008

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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."