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CFTR c.1906_1907delinsGA ;(p.L636E)
Variant ID: 7-117232127-CT-GA
NM_000492.3(
CFTR
):c.1906_1907delinsGA;(p.L636E)
This variant was identified in 2 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: L636E
PubMed Link:
30498130
Variant Present in the following documents:
Main text
EMBJ-38-e100101.pdf
View BVdb publication page
Thermal unfolding studies show the disease causing F508del mutation in CFTR thermodynamically destabilizes nucleotide-binding domain 1.
Protein Science : A Publication Of The Protein Society
Protasevich, Irina I; Yang, Zhengrong Z; Wang, Chi C; Atwell, Shane S; Zhao, Xun X; Emtage, Spencer S; Wetmore, Diana D; Hunt, John F JF; Brouillette, Christie G CG
Publication Date: 2010-10
Variant appearance in text: CFTR: L636E
PubMed Link:
20687133
Variant Present in the following documents:
Main text
View BVdb publication page