Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K978R
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CFTR

NM_000492.4:p.K978R

Associated Papers

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Cell Genomics, 2025

41330381 (PubMed )
Supplement: mmc3.xlsx › Sheet1

Cystic fibrosis risk variants confer protection against inflammatory bowel disease.

Yu M et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39677473 (PubMed )
Supplement: media-1.xlsx › ST3

C FTR variants are associated with chronic bronchitis in smokers.

Saferali A et al.

The European Respiratory Journal, 2022

Interference with ubiquitination in CFTR modifies stability of core glycosylated and cell surface pools.

Lee S et al.

Molecular and Cellular Biology, 2014

COMMD1-mediated ubiquitination regulates CFTR trafficking.

Drévillon L et al.

Plos One, 2011

CFTR inhibition by glibenclamide requires a positive charge in cytoplasmic loop three.

Melin P et al.

Biochimica Et Biophysica Acta, 2007

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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."