KEGG   VARIANT: 103v1
Entry
103v1                      Variant                                 
Name
ADAR mutation
Gene
ADAR  adenosine deaminase RNA specific [KO:K12968]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 146920
Network
nt06519  RLR signaling
Disease
H00290  Aicardi-Goutieres syndrome
H00880  Dyschromatosis symmetrica hereditaria
Reference
  Authors
Crow YJ, Stetson DB
  Title
The type I interferonopathies: 10 years on.
  Journal
Nat Rev Immunol 22:471-483 (2022)
DOI:10.1038/s41577-021-00633-9
Reference
  Authors
Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N
  Title
Molecular biology of autoinflammatory diseases.
  Journal
Inflamm Regen 41:33 (2021)
DOI:10.1186/s41232-021-00181-8
Reference
  Authors
Quin J, Sedmik J, Vukic D, Khan A, Keegan LP, O'Connell MA
  Title
ADAR RNA Modifications, the Epitranscriptome and Innate Immunity.
  Journal
Trends Biochem Sci 46:758-771 (2021)
DOI:10.1016/j.tibs.2021.02.002
Reference
  Authors
Miyamura Y, Suzuki T, Kono M, Inagaki K, Ito S, Suzuki N, Tomita Y
  Title
Mutations of the RNA-specific adenosine deaminase gene (DSRAD) are involved in dyschromatosis symmetrica hereditaria.
  Journal
Am J Hum Genet 73:693-9 (2003)
DOI:10.1086/378209
LinkDB

DBGET integrated database retrieval system