CFTR c.1039_1040delinsGC ;(p.R347A)

Variant ID: 7-117180323-CG-GC

NM_000492.3(CFTR):c.1039_1040delinsGC;(p.R347A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Strategies for cystic fibrosis transmembrane conductance regulator inhibition: from molecular mechanisms to treatment for secretory diarrhoeas.

Febs Letters
de Jonge, Hugo R HR; Ardelean, Maria C MC; Bijvelds, Marcel J C MJC; Vergani, Paola P
Publication Date: 2020-12

Variant appearance in text: CFTR: R347A
PubMed Link: 33113586
Variant Present in the following documents:
  • Main text
  • FEB2-594-4085.pdf
View BVdb publication page



Murine and human CFTR exhibit different sensitivities to CFTR potentiators.

American Journal Of Physiology. Lung Cellular And Molecular Physiology
Cui, Guiying G; McCarty, Nael A NA
Publication Date: 2015-10-01

Variant appearance in text: CFTR: R347A
PubMed Link: 26209275
Variant Present in the following documents:
  • Main text
View BVdb publication page



Two salt bridges differentially contribute to the maintenance of cystic fibrosis transmembrane conductance regulator (CFTR) channel function.

The Journal Of Biological Chemistry
Cui, Guiying G; Freeman, Cody S CS; Knotts, Taylor T; Prince, Chengyu Z CZ; Kuang, Christopher C; McCarty, Nael A NA
Publication Date: 2013-07-12

Variant appearance in text: CFTR: R347A
PubMed Link: 23709221
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutations at arginine 352 alter the pore architecture of CFTR.

The Journal Of Membrane Biology
Cui, Guiying G; Zhang, Zhi-Ren ZR; O'Brien, Andrew R W AR; Song, Binlin B; McCarty, Nael A NA
Publication Date: 2008-03

Variant appearance in text: CFTR: R347A
PubMed Link: 18421494
Variant Present in the following documents:
  • Main text
View BVdb publication page