KEGG   VARIANT: 7535v1
Entry
7535v1                      Variant                                
Name
ZAP70 mutation
Type
Loss of function
Gene
ZAP70  zeta chain of T cell receptor associated protein kinase 70 [KO:K07360]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 176947
Network
nt06537  TCR/BCR signaling
Disease
H00093  Combined immunodeficiency
H02540  Infantile-onset multisystem autoimmune disease
Reference
PMID:35091087
  Authors
Latour S
  Title
Inherited immunodeficiencies associated with proximal and distal defects in T cell receptor signaling and co-signaling.
  Journal
Biomed J 45:321-333 (2022)
DOI:10.1016/j.bj.2022.01.013
LinkDB

DBGET integrated database retrieval system