KEGG   VARIANT: 79621v1
Entry
79621v1                      Variant                               
Name
RNASEH2B mutation
Type
Loss of function
Gene
RNASEH2B  ribonuclease H2 subunit B [KO:K10744]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 610326
Network
nt06509  DNA replication
nt06520  CGAS-STING signaling
Disease
H00290  Aicardi-Goutieres syndrome
Reference
  Authors
Crow YJ, Leitch A, Hayward BE, Garner A, Parmar R, Griffith E, Ali M, Semple C, Aicardi J, Babul-Hirji R, Baumann C, Baxter P, Bertini E, Chandler KE, Chitayat D, Cau D, Dery C, Fazzi E, Goizet C, King MD, Klepper J, Lacombe D, Lanzi G, Lyall H, Martinez-Frias ML, Mathieu M, McKeown C, Monier A, Oade Y, Quarrell OW, Rittey CD, Rogers RC, Sanchis A, Stephenson JB, Tacke U, Till M, Tolmie JL, Tomlin P, Voit T, Weschke B, Woods CG, Lebon P, Bonthron DT, Ponting CP, Jackson AP
  Title
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection.
  Journal
Nat Genet 38:910-6 (2006)
DOI:10.1038/ng1842
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