CFTR c.800A>C ;(p.E267A)

Variant ID: 7-117176658-A-C

NM_000492.3(CFTR):c.800A>C;(p.E267A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


ClC Channels and Transporters: Structure, Physiological Functions, and Implications in Human Chloride Channelopathies.

Frontiers In Pharmacology
Poroca, Diogo R DR; Pelis, Ryan M RM; Chappe, Valérie M VM
Publication Date: 2017

Variant appearance in text: CFTR: E267A
PubMed Link: 28386229
Variant Present in the following documents:
  • fphar-08-00151.pdf
View BVdb publication page



An electrostatic interaction at the tetrahelix bundle promotes phosphorylation-dependent cystic fibrosis transmembrane conductance regulator (CFTR) channel opening.

The Journal Of Biological Chemistry
Wang, Wei W; Roessler, Bryan C BC; Kirk, Kevin L KL
Publication Date: 2014-10-31

Variant appearance in text: CFTR: E267A
PubMed Link: 25190805
Variant Present in the following documents:
  • Main text
View BVdb publication page