KEGG   VARIANT: 4939v1
Entry
4939v1                      Variant                                
Name
OAS2 mutation
Type
Loss of function
Gene
OAS2  2'-5'-oligoadenylate synthetase 2 [KO:K14216]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603350
Network
nt06521  NLR signaling
Disease
H03012  Autoinflammation and autoimmunity, systemic, with immune dysregulation
Reference
PMID:40412389
  Authors
Merold V, Bekere I, Kretschmer S, Schnell AF, Kmiec D, Sivarajan R, Lammens K, Liu R, Mergner J, Teppert J, Hirschenberger M, Henrici A, Hammes S, Buder K, Weitz M, Hackmann K, Koenig LM, Pichlmair A, Schwierz N, Sparrer KMJ, Lee-Kirsch MA, de Oliveira Mann CC
  Title
Structural basis for OAS2 regulation and its antiviral function.
  Journal
Mol Cell 85:2176-2193.e13 (2025)
DOI:10.1016/j.molcel.2025.05.001
LinkDB

DBGET integrated database retrieval system