CFTR c.1522_1524delinsAAG ;(p.F508K)

Variant ID: 7-117199647-TTT-AAG

NM_000492.3(CFTR):c.1522_1524delinsAAG;(p.F508K)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Requirements for efficient correction of ΔF508 CFTR revealed by analyses of evolved sequences.

Cell
Mendoza, Juan L JL; Schmidt, André A; Li, Qin Q; Nuvaga, Emmanuel E; Barrett, Tyler T; Bridges, Robert J RJ; Feranchak, Andrew P AP; Brautigam, Chad A CA; Thomas, Philip J PJ
Publication Date: 2012-01-20

Variant appearance in text: CFTR: F508K
PubMed Link: 22265409
Variant Present in the following documents:
  • Main text
View BVdb publication page



The cystic fibrosis-causing mutation deltaF508 affects multiple steps in cystic fibrosis transmembrane conductance regulator biogenesis.

The Journal Of Biological Chemistry
Thibodeau, Patrick H PH; Richardson, John M JM; Wang, Wei W; Millen, Linda L; Watson, Jarod J; Mendoza, Juan L JL; Du, Kai K; Fischman, Sharon S; Senderowitz, Hanoch H; Lukacs, Gergely L GL; Kirk, Kevin K; Thomas, Philip J PJ
Publication Date: 2010-11-12

Variant appearance in text: CFTR: F508K
PubMed Link: 20667826
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: F508K
PubMed Link: 15619636
Variant Present in the following documents:
  • Main text
View BVdb publication page