CFTR c.3208_3209delinsGC ;(p.R1070A)

Variant ID: 7-117251703-CG-GC

NM_000492.3(CFTR):c.3208_3209delinsGC;(p.R1070A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1.

Molecular Biology Of The Cell
Ren, Hong Yu HY; Grove, Diane E DE; De La Rosa, Oxana O; Houck, Scott A SA; Sopha, Pattarawut P; Van Goor, Fredrick F; Hoffman, Beth J BJ; Cyr, Douglas M DM
Publication Date: 2013-10

Variant appearance in text: CFTR: R1070A
PubMed Link: 23924900
Variant Present in the following documents:
  • Main text
  • 3016.pdf
View BVdb publication page



Cystic fibrosis transmembrane conductance regulator (ABCC7) structure.

Cold Spring Harbor Perspectives In Medicine
Hunt, John F JF; Wang, Chi C; Ford, Robert C RC
Publication Date: 2013-02-01

Variant appearance in text: CFTR: R1070A
PubMed Link: 23378596
Variant Present in the following documents:
  • Main text
View BVdb publication page



The V510D suppressor mutation stabilizes DeltaF508-CFTR at the cell surface.

Biochemistry
Loo, Tip W TW; Bartlett, M Claire MC; Clarke, David M DM
Publication Date: 2010-08-03

Variant appearance in text: CFTR: R1070A
PubMed Link: 20590134
Variant Present in the following documents:
  • Main text
  • bi100807h.pdf
View BVdb publication page