Bibliome.ai browser hg19
Search
About
Stats
FAQ
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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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