MEF2D c.396+35C>G

Variant ID: 1-156450591-G-C

NM_005920.3(MEF2D):c.396+35C>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Regulation of IFN-Is by MEF2D Promotes Inflammatory Homeostasis in Microglia.

Journal Of Inflammation Research
Lu, Fangfang F; Wang, Ronglin R; Xia, Li L; Nie, Tiejian T; Gao, Fei F; Yang, Shaosong S; Huang, Lu L; Shao, Kaifeng K; Liu, Jiankang J; Yang, Qian Q
Publication Date: 2021

Variant appearance in text: rs200395694
PubMed Link: 34234510
Variant Present in the following documents:
  • Main text
  • jir-14-2851.pdf
View BVdb publication page



A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts.

European Journal Of Human Genetics : Ejhg
Farias, Fabiana H G FHG; Dahlqvist, Johanna J; Kozyrev, Sergey V SV; Leonard, Dag D; Wilbe, Maria M; Abramov, Sergei N SN; Alexsson, Andrei A; Pielberg, Gerli R GR; Hansson-Hamlin, Helene H; Andersson, Göran G; Tandre, Karolina K; Bengtsson, Anders A AA; Sjöwall, Christopher C; Svenungsson, Elisabet E; Gunnarsson, Iva I; Rantapää-Dahlqvist, Solbritt S; Syvänen, Ann-Christine AC; Sandling, Johanna K JK; Eloranta, Maija-Leena ML; Rönnblom, Lars L; Lindblad-Toh, Kerstin K
Publication Date: 2019-03

Variant appearance in text: rs200395694
PubMed Link: 30459414
Variant Present in the following documents:
  • Main text
  • 41431_2018_297_MOESM2_ESM.pdf
  • 41431_2018_Article_297.pdf
View BVdb publication page