KEGG   VARIANT: 64127v2
Entry
64127v2                      Variant                               
Name
NOD2 activating mutation
Type
Gain of function
Gene
NOD2  nucleotide binding oligomerization domain containing 2 [KO:K10165]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605956
Network
nt06521  NLR signaling
Disease
H00285  Blau syndrome
Reference
  Authors
Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N
  Title
Molecular biology of autoinflammatory diseases.
  Journal
Inflamm Regen 41:33 (2021)
DOI:10.1186/s41232-021-00181-8
Reference
  Authors
Kanazawa N, Okafuji I, Kambe N, Nishikomori R, Nakata-Hizume M, Nagai S, Fuji A, Yuasa T, Manki A, Sakurai Y, Nakajima M, Kobayashi H, Fujiwara I, Tsutsumi H, Utani A, Nishigori C, Heike T, Nakahata T, Miyachi Y
  Title
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.
  Journal
Blood 105:1195-7 (2005)
DOI:10.1182/blood-2004-07-2972
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