Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.S118C
Back to variants list

CFTR

NM_000492.4:p.S118C

Associated Papers

Structural mechanisms of CFTR function and dysfunction.

Hwang TC et al.

The Journal of General Physiology, 2018

29581173 (PubMed )
Supplement: JGP_201711946_TableS1.pdf

Interaction between 2 extracellular loops influences the activity of the cystic fibrosis transmembrane conductance regulator chloride channel.

Broadbent SD et al.

Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."