KEGG   VARIANT: 6850v1
Entry
6850v1                      Variant                                
Name
SYK mutation
Type
Gain of function
Gene
SYK  spleen associated tyrosine kinase [KO:K05855]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600085
Network
nt06537  TCR/BCR signaling
Disease
H02526  Disorders of adaptive immunity
Reference
  Authors
Wang L, Aschenbrenner D, Zeng Z, Cao X, Mayr D, Mehta M, Capitani M, Warner N, Pan J, Wang L, Li Q, Zuo T, Cohen-Kedar S, Lu J, Ardy RC, Mulder DJ, Dissanayake D, Peng K, Huang Z, Li X, Wang Y, Wang X, Li S, Bullers S, Gammage AN, Warnatz K, Schiefer AI, Krivan G, Goda V, Kahr WHA, Lemaire M, Lu CY, Siddiqui I, Surette MG, Kotlarz D, Engelhardt KR, Griffin HR, Rottapel R, Decaluwe H, Laxer RM, Proietti M, Hambleton S, Elcombe S, Guo CH, Grimbacher B, Dotan I, Ng SC, Freeman SA, Snapper SB, Klein C, Boztug K, Huang Y, Li D, Uhlig HH, Muise AM
  Title
Gain-of-function variants in SYK cause immune dysregulation and systemic inflammation in humans and mice.
  Journal
Nat Genet 53:500-510 (2021)
DOI:10.1038/s41588-021-00803-4
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