KEGG   VARIANT: 6773v2
Entry
6773v2                      Variant                                
Name
STAT2 gain-of-function mutation
Type
Gain of function
Gene
STAT2  signal transducer and activator of transcription 2 [KO:K11221]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600556
Network
nt06518  JAK-STAT signaling
Disease
H00840  Pseudo-TORCH syndrome
Reference
PMID:34625141
  Authors
Luo Y, Alexander M, Gadina M, O'Shea JJ, Meylan F, Schwartz DM
  Title
JAK-STAT signaling in human disease: From genetic syndromes to clinical inhibition.
  Journal
J Allergy Clin Immunol 148:911-925 (2021)
DOI:10.1016/j.jaci.2021.08.004
Reference
PMID:32092142
  Authors
Gruber C, Martin-Fernandez M, Ailal F, Qiu X, Taft J, Altman J, Rosain J, Buta S, Bousfiha A, Casanova JL, Bustamante J, Bogunovic D
  Title
Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy.
  Journal
J Exp Med 217:133837 (2020)
DOI:10.1084/jem.20192319
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