CFTR c.1522_1523delinsCG ;(p.F508R)

Variant ID: 7-117199647-TT-CG

NM_000492.3(CFTR):c.1522_1523delinsCG;(p.F508R)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Recent Strategic Advances in CFTR Drug Discovery: An Overview.

International Journal Of Molecular Sciences
Rusnati, Marco M; D'Ursi, Pasqualina P; Pedemonte, Nicoletta N; Urbinati, Chiara C; Ford, Robert C RC; Cichero, Elena E; Uggeri, Matteo M; Orro, Alessandro A; Fossa, Paola P
Publication Date: 2020-03-31

Variant appearance in text: CFTR: F508R
PubMed Link: 32244346
Variant Present in the following documents:
  • Main text
  • ijms-21-02407.pdf
View BVdb publication page



DROIDS 1.20: A GUI-Based Pipeline for GPU-Accelerated Comparative Protein Dynamics.

Biophysical Journal
Babbitt, Gregory A GA; Mortensen, Jamie S JS; Coppola, Erin E EE; Adams, Lily E LE; Liao, Justin K JK
Publication Date: 2018-03-13

Variant appearance in text: CFTR: F508R
PubMed Link: 29539389
Variant Present in the following documents:
  • Main text
  • main.pdf
  • mmc2.pdf
View BVdb publication page



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: F508R
PubMed Link: 22265409
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: F508R
PubMed Link: 22265408
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: F508R
PubMed Link: 20667826
Variant Present in the following documents:
  • Main text
View BVdb publication page



A soluble sulfogalactosyl ceramide mimic promotes Delta F508 CFTR escape from endoplasmic reticulum associated degradation.

Chemistry & Biology
Park, Hyun-Joo HJ; Mylvaganum, Murugesapillai M; McPherson, Anne A; Fewell, Sheara W SW; Brodsky, Jeffrey L JL; Lingwood, Clifford A CA
Publication Date: 2009-04-24

Variant appearance in text: CFTR: F508R
PubMed Link: 19389632
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: F508R
PubMed Link: 15619636
Variant Present in the following documents:
  • Main text
View BVdb publication page



Comparison of the bacterial HelA protein to the F508 region of the cystic fibrosis transmembrane regulator.

Journal Of Bacteriology
Goldman, B S BS; Sherman, D A DA; Kranz, R G RG
Publication Date: 1997-12

Variant appearance in text: CFTR: F508R
PubMed Link: 9401049
Variant Present in the following documents:
  • Main text
View BVdb publication page