KEGG   VARIANT: 6712v1
Entry
6712v1                      Variant                                
Name
SPTBN2 mutation
Gene
SPTBN2  spectrin beta, non-erythrocytic 2 [KO:K23932]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604985
Network
nt06462  Spinocerebellar ataxia
nt06466  Pathways of neurodegeneration
Disease
H00063  Spinocerebellar ataxia (SCA)
Reference
PMID:16429157
  Authors
Ikeda Y, Dick KA, Weatherspoon MR, Gincel D, Armbrust KR, Dalton JC, Stevanin G, Durr A, Zuhlke C, Burk K, Clark HB, Brice A, Rothstein JD, Schut LJ, Day JW, Ranum LP
  Title
Spectrin mutations cause spinocerebellar ataxia type 5.
  Journal
Nat Genet 38:184-90 (2006)
DOI:10.1038/ng1728
Reference
PMID:29777722
  Authors
Hisatsune C, Hamada K, Mikoshiba K
  Title
Ca(2+) signaling and spinocerebellar ataxia.
  Journal
Biochim Biophys Acta Mol Cell Res 1865:1733-1744 (2018)
DOI:10.1016/j.bbamcr.2018.05.009
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