Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Q207L
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CFTR

NM_000492.4:p.Q207L

Associated Papers

The cystic fibrosis V232D mutation inhibits CFTR maturation by disrupting a hydrophobic pocket rather than formation of aberrant interhelical hydrogen bonds.

Loo TW et al.

Biochemical Pharmacology, 2014

Positional dependence of non-native polar mutations on folding of CFTR helical hairpins.

Wehbi H et al.

Biochimica Et Biophysica Acta, 2008

Role of the extracellular loop in the folding of a CFTR transmembrane helical hairpin.

Wehbi H et al.

Biochemistry, 2007

Non-native interhelical hydrogen bonds in the cystic fibrosis transmembrane conductance regulator domain modulated by polar mutations.

Choi MY et al.

Biochemistry, 2004

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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."