MEFV c.1730C>A ;(p.T577N)

Variant ID: 16-3294283-G-T

NM_000243.2(MEFV):c.1730C>A;(p.T577N)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Mediterranean fever gene variants modify clinical phenotypes of idiopathic multi-centric Castleman disease.

Clinical And Experimental Immunology
Endo, Yushiro Y; Koga, Tomohiro T; Ubara, Yoshihumi Y; Sumiyoshi, Remi R; Furukawa, Kaori K; Kawakami, Atsushi A
Publication Date: 2021-10

Variant appearance in text: MEFV: Thr577Asn
PubMed Link: 34096620
Variant Present in the following documents:
  • CEI-206-91.pdf
View BVdb publication page



Hints for Genetic and Clinical Differentiation of Adult-Onset Monogenic Autoinflammatory Diseases.

Mediators Of Inflammation
Gaggiano, Carla C; Rigante, Donato D; Vitale, Antonio A; Lucherini, Orso Maria OM; Fabbiani, Alessandra A; Capozio, Giovanna G; Marzo, Chiara C; Gelardi, Viviana V; Grosso, Salvatore S; Frediani, Bruno B; Renieri, Alessandra A; Cantarini, Luca L
Publication Date: 2019

Variant appearance in text: N/A
PubMed Link: 32082075
Variant Present in the following documents:
View BVdb publication page



The Pyrin Inflammasome in Health and Disease.

Frontiers In Immunology
Schnappauf, Oskar O; Chae, Jae Jin JJ; Kastner, Daniel L DL; Aksentijevich, Ivona I
Publication Date: 2019

Variant appearance in text: FMF: Thr577Asn
PubMed Link: 31456795
Variant Present in the following documents:
  • Main text
  • fimmu-10-01745.pdf
View BVdb publication page



Complexity of familial Mediterranean fever genetics.

European Journal Of Rheumatology
İlgen, Ufuk U
Publication Date: 2020-01

Variant appearance in text: FMF: T577N
PubMed Link: 31329540
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of a second binding site on the TRIM25 B30.2 domain.

The Biochemical Journal
D'Cruz, Akshay A AA; Kershaw, Nadia J NJ; Hayman, Thomas J TJ; Linossi, Edmond M EM; Chiang, Jessica J JJ; Wang, May K MK; Dagley, Laura F LF; Kolesnik, Tatiana B TB; Zhang, Jian-Guo JG; Masters, Seth L SL; Griffin, Michael D W MDW; Gack, Michaela U MU; Murphy, James M JM; Nicola, Nicos A NA; Babon, Jeffrey J JJ; Nicholson, Sandra E SE
Publication Date: 2018-01-23

Variant appearance in text: MEFV: T577N
PubMed Link: 29259080
Variant Present in the following documents:
  • Main text
View BVdb publication page



Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers In Immunology
Martorana, Davide D; Bonatti, Francesco F; Mozzoni, Paola P; Vaglio, Augusto A; Percesepe, Antonio A
Publication Date: 2017

Variant appearance in text: MEFV: Thr577Asn
PubMed Link: 28421071
Variant Present in the following documents:
  • Main text
View BVdb publication page



Familial Mediterranean Fever: Recent Developments in Pathogenesis and New Recommendations for Management.

Frontiers In Immunology
Özen, Seza S; Batu, Ezgi Deniz ED; Demir, Selcan S
Publication Date: 2017

Variant appearance in text: FMF: T577N
PubMed Link: 28386255
Variant Present in the following documents:
  • Main text
  • fimmu-08-00253.pdf
View BVdb publication page