CFTR c.1297T>C ;(p.F433L)

Variant ID: 7-117188782-T-C

NM_000492.3(CFTR):c.1297T>C;(p.F433L)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


A pathogenic role for cystic fibrosis transmembrane conductance regulator in celiac disease.

The Embo Journal
Villella, Valeria R VR; Venerando, Andrea A; Cozza, Giorgio G; Esposito, Speranza S; Ferrari, Eleonora E; Monzani, Romina R; Spinella, Mara C MC; Oikonomou, Vasilis V; Renga, Giorgia G; Tosco, Antonella A; Rossin, Federica F; Guido, Stefano S; Silano, Marco M; Garaci, Enrico E; Chao, Yu-Kai YK; Grimm, Christian C; Luciani, Alessandro A; Romani, Luigina L; Piacentini, Mauro M; Raia, Valeria V; Kroemer, Guido G; Maiuri, Luigi L
Publication Date: 2019-01-15

Variant appearance in text: CFTR: F433L
PubMed Link: 30498130
Variant Present in the following documents:
  • Main text
  • EMBJ-38-e100101.pdf
View BVdb publication page



Differential Scanning Fluorimetry and Hydrogen Deuterium Exchange Mass Spectrometry to Monitor the Conformational Dynamics of NBD1 in Cystic Fibrosis.

Methods In Molecular Biology (Clifton, N.J.)
Soya, Naoto N; Roldan, Ariel A; Lukacs, Gergely L GL
Publication Date: 2019

Variant appearance in text: CFTR: F433L
PubMed Link: 30341603
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: F433L
PubMed Link: 15619636
Variant Present in the following documents:
  • Main text
View BVdb publication page