CFTR c.799_800delinsAG ;(p.E267R)

Variant ID: 7-117176657-GA-AG

NM_000492.3(CFTR):c.799_800delinsAG;(p.E267R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


G551D mutation impairs PKA-dependent activation of CFTR channel that can be restored by novel GOF mutations.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Wang, Wei W; Fu, Lianwu L; Liu, Zhiyong Z; Wen, Hui H; Rab, Andras A; Hong, Jeong S JS; Kirk, Kevin L KL; Rowe, Steven M SM
Publication Date: 2020-11-01

Variant appearance in text: CFTR: E267R
PubMed Link: 32877225
Variant Present in the following documents:
  • Main text
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: E267R
PubMed Link: 25190805
Variant Present in the following documents:
  • Main text
View BVdb publication page