TLR4 c.2371_2372delinsCA ;(p.R791Q)

Variant ID: 9-120476777-AG-CA

NM_138554.4(TLR4):c.2371_2372delinsCA;(p.R791Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutational profile of rare variants in inflammasome-related genes in Behçet disease: A Next Generation Sequencing approach.

Scientific Reports
Burillo-Sanz, Sergio S; Montes-Cano, Marco-Antonio MA; García-Lozano, José-Raúl JR; Ortiz-Fernández, Lourdes L; Ortego-Centeno, Norberto N; García-Hernández, Francisco-José FJ; Espinosa, Gerard G; Graña-Gil, Genaro G; Sánchez-Bursón, Juan J; Rosa Juliá, María M; Solans, Roser R; Blanco, Ricardo R; Barnosi-Marín, Ana-Celia AC; Gómez De la Torre, Ricardo R; Fanlo, Patricia P; Rodríguez-Carballeira, Mónica M; Rodríguez-Rodríguez, Luis L; Camps, Teresa T; Castañeda, Santos S; Alegre-Sancho, Juan-Jose JJ; Martín, Javier J; González-Escribano, María Francisca MF
Publication Date: 2017-08-16

Variant appearance in text: TLR4: Arg791Gln
PubMed Link: 28814775
Variant Present in the following documents:
  • 41598_2017_Article_9164.pdf
View BVdb publication page



Toll-like receptor 4 and NOD2/CARD15 mutations in Hungarian patients with Crohn's disease: phenotype-genotype correlations.

World Journal Of Gastroenterology
Lakatos, Peter Laszlo PL; Lakatos, Laszlo L; Szalay, Ferenc F; Willheim-Polli, Claudia C; Osterreicher, Christoph C; Tulassay, Zsolt Z; Molnar, Tamas T; Reinisch, Walter W; Papp, Janos J; Mozsik, Gyula G; Ferenci, Peter P; ,
Publication Date: 2005-03-14

Variant appearance in text: TLR4: R791Q
PubMed Link: 15770725
Variant Present in the following documents:
  • Main text
View BVdb publication page