KEGG   VARIANT: 3752v1
Entry
3752v1                      Variant                                
Name
KCND3 mutation
Gene
KCND3  potassium voltage-gated channel subfamily D member 3 [KO:K04893]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605411
Network
nt06462  Spinocerebellar ataxia
Disease
H00063  Spinocerebellar ataxia (SCA)
Reference
  Authors
Lee YC, Durr A, Majczenko K, Huang YH, Liu YC, Lien CC, Tsai PC, Ichikawa Y, Goto J, Monin ML, Li JZ, Chung MY, Mundwiller E, Shakkottai V, Liu TT, Tesson C, Lu YC, Brice A, Tsuji S, Burmeister M, Stevanin G, Soong BW
  Title
Mutations in KCND3 cause spinocerebellar ataxia type 22.
  Journal
Ann Neurol 72:859-69 (2012)
DOI:10.1002/ana.23701
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