KEGG   VARIANT: 22909v1
Entry
22909v1                      Variant                               
Name
FAN1 mutation
Type
Loss of function
Gene
FAN1  FANCD2 and FANCI associated nuclease 1 [KO:K15363]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 613534
Network
nt06508  Interstrand crosslink repair
Disease
H02577  Karyomegalic interstitial nephritis
Reference
  Authors
Zhou W, Otto EA, Cluckey A, Airik R, Hurd TW, Chaki M, Diaz K, Lach FP, Bennett GR, Gee HY, Ghosh AK, Natarajan S, Thongthip S, Veturi U, Allen SJ, Janssen S, Ramaswami G, Dixon J, Burkhalter F, Spoendlin M, Moch H, Mihatsch MJ, Verine J, Reade R, Soliman H, Godin M, Kiss D, Monga G, Mazzucco G, Amann K, Artunc F, Newland RC, Wiech T, Zschiedrich S, Huber TB, Friedl A, Slaats GG, Joles JA, Goldschmeding R, Washburn J, Giles RH, Levy S, Smogorzewska A, Hildebrandt F
  Title
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
  Journal
Nat Genet 44:910-5 (2012)
DOI:10.1038/ng.2347
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