Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.C128S
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CFTR

NM_000492.4:p.C128S

Associated Papers

Structural basis for CFTR inhibition by CFTRinh-172.

Young PG et al.

Proceedings of the National Academy of Sciences of the United States of America, 2024

CFTR function, pathology and pharmacology at single-molecule resolution.

Levring J et al.

Nature, 2023

Functional differences in pore properties between wild-type and cysteine-less forms of the CFTR chloride channel.

Holstead RG et al.

The Journal of Membrane Biology, 2011

In vivo phosphorylation of CFTR promotes formation of a nucleotide-binding domain heterodimer.

Mense M et al.

The Embo Journal, 2006

Intracellular cysteines of the cystic fibrosis transmembrane conductance regulator (CFTR) modulate channel gating.

Ketchum CJ et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2002

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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."