KEGG   VARIANT: 165918v1
Entry
165918v1                      Variant                              
Name
RNF168 mutation
Type
Loss of function
Gene
RNF168  ring finger protein 168 [KO:K20779]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 612688
Network
nt06506  Double-strand break repair
Disease
H00962  RIDDLE syndrome
Reference
PMID:21394101
  Authors
Devgan SS, Sanal O, Doil C, Nakamura K, Nahas SA, Pettijohn K, Bartek J, Lukas C, Lukas J, Gatti RA
  Title
Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia.
  Journal
Cell Death Differ 18:1500-6 (2011)
DOI:10.1038/cdd.2011.18
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