Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K464R
Back to variants list

CFTR

NM_000492.4:p.K464R

Associated Papers

KDM2A and KDM3B as Potential Targets for the Rescue of F508del-CFTR.

D'Amore C et al.

International Journal of Molecular Sciences, 2022

Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome.

Ficker E et al.

American Journal of Physiology. Heart and Circulatory Physiology, 2000

Glycerol reverses the misfolding phenotype of the most common cystic fibrosis mutation.

Sato S et al.

The Journal of Biological Chemistry, 1996

CFTR: the nucleotide binding folds regulate the accessibility and stability of the activated state.

Wilkinson DJ et al.

The Journal of General Physiology, 1996

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."