CFTR c.1522_1523delinsCA ;(p.F508H)

Variant ID: 7-117199647-TT-CA

NM_000492.3(CFTR):c.1522_1523delinsCA;(p.F508H)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Phenotypic Alteration of an Established Human Airway Cell Line by Media Selection.

International Journal Of Molecular Sciences
Livnat, Galit G; Meeker, Jessica D JD; Ostmann, Alicia J AJ; Strecker, Lauren M LM; Clancy, John P JP; Brewington, John J JJ
Publication Date: 2023-01-08

Variant appearance in text: CFTR: F508H
PubMed Link: 36674762
Variant Present in the following documents:
  • ijms-24-01246.pdf
View BVdb publication page



The Contribution of the Airway Epithelial Cell to Host Defense.

Mediators Of Inflammation
Stanke, Frauke F
Publication Date: 2015

Variant appearance in text: CFTR: F508H
PubMed Link: 26185361
Variant Present in the following documents:
  • Main text
  • MI2015-463016.pdf
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: F508H
PubMed Link: 15619636
Variant Present in the following documents:
  • Main text
View BVdb publication page