Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.K593*
Back to variants list

CFTR

NM_000492.4:p.K593*

Associated Papers

R-domain interactions with distal regions of CFTR lead to phosphorylation and activation.

King SA et al.

Biochemistry, 2000

Identification of the cystic fibrosis transmembrane conductance regulator domains that are important for interactions with ROMK2.

Cahill P et al.

The Journal of Biological Chemistry, 2000

CFTR is a conductance regulator as well as a chloride channel.

Schwiebert EM et al.

Physiological Reviews, 1999

A functional CFTR-NBF1 is required for ROMK2-CFTR interaction.

McNicholas CM et al.

The American Journal of Physiology, 1997

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."