CFTR c.1522_1523delinsGG ;(p.F508G)

Variant ID: 7-117199647-TT-GG

NM_000492.3(CFTR):c.1522_1523delinsGG;(p.F508G)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.

Molecular Biology Of The Cell
Veit, Gudio G; Avramescu, Radu G RG; Chiang, Annette N AN; Houck, Scott A SA; Cai, Zhiwei Z; Peters, Kathryn W KW; Hong, Jeong S JS; Pollard, Harvey B HB; Guggino, William B WB; Balch, William E WE; Skach, William R WR; Cutting, Garry R GR; Frizzell, Raymond A RA; Sheppard, David N DN; Cyr, Douglas M DM; Sorscher, Eric J EJ; Brodsky, Jeffrey L JL; Lukacs, Gergely L GL
Publication Date: 2016-02-01

Variant appearance in text: CFTR: F508G
PubMed Link: 26823392
Variant Present in the following documents:
  • Main text
  • 424.pdf
View BVdb publication page



Mechanism-based corrector combination restores ΔF508-CFTR folding and function.

Nature Chemical Biology
Okiyoneda, Tsukasa T; Veit, Guido G; Dekkers, Johanna F JF; Bagdany, Miklos M; Soya, Naoto N; Xu, Haijin H; Roldan, Ariel A; Verkman, Alan S AS; Kurth, Mark M; Simon, Agnes A; Hegedus, Tamas T; Beekman, Jeffrey M JM; Lukacs, Gergely L GL
Publication Date: 2013-07

Variant appearance in text: CFTR: F508G
PubMed Link: 23666117
Variant Present in the following documents:
  • Main text
View BVdb publication page



Correction of both NBD1 energetics and domain interface is required to restore ΔF508 CFTR folding and function.

Cell
Rabeh, Wael M WM; Bossard, Florian F; Xu, Haijin H; Okiyoneda, Tsukasa T; Bagdany, Miklos M; Mulvihill, Cory M CM; Du, Kai K; di Bernardo, Salvatore S; Liu, Yuhong Y; Konermann, Lars L; Roldan, Ariel A; Lukacs, Gergely L GL
Publication Date: 2012-01-20

Variant appearance in text: CFTR: F508G
PubMed Link: 22265408
Variant Present in the following documents:
  • Main text
View BVdb publication page



Side chain and backbone contributions of Phe508 to CFTR folding.

Nature Structural & Molecular Biology
Thibodeau, Patrick H PH; Brautigam, Chad A CA; Machius, Mischa M; Thomas, Philip J PJ
Publication Date: 2005-01

Variant appearance in text: CFTR: F508G
PubMed Link: 15619636
Variant Present in the following documents:
  • Main text
View BVdb publication page