KEGG   VARIANT: 4773v1
Entry
4773v1                      Variant                                
Name
NFATC2 mutation
Type
Loss of function
Gene
NFATC2  nuclear factor of activated T cells 2 [KO:K17332]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600490
Network
nt06535  Efferocytosis
Disease
H02664  Joint contracture, osteochondromas, and B-cell lymphoma
Reference
PMID:35789258
  Authors
Sharma M, Fu MP, Lu HY, Sharma AA, Modi BP, Michalski C, Lin S, Dalmann J, Salman A, Del Bel KL, Waqas M, Terry J, Setiadi A, Lavoie PM, Wasserman WW, Mwenifumbo J, Kobor MS, Lee AF, Kuchenbauer F, Lehman A, Cheng S, Cooper A, Patel MS, Turvey SE
  Title
Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.
  Journal
Blood 140:1858-1874 (2022)
DOI:10.1182/blood.2022015674
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