CFTR c.1522_1524delinsGAG ;(p.F508E)

Variant ID: 7-117199647-TTT-GAG

NM_000492.3(CFTR):c.1522_1524delinsGAG;(p.F508E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: F508E
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: F508E
PubMed Link: 15619636
Variant Present in the following documents:
  • Main text
View BVdb publication page