KEGG   VARIANT: 6310v1
Entry
6310v1                      Variant                                

Name
ATXN1 mutation
Gene
ATXN1  ataxin 1 [KO:K23616]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601556
Network
nt06440  Transcription
nt06462  Spinocerebellar ataxia
  Element
N00966  Mutation-caused aberrant ATXN1 to RORA-mediated transcription
Reference
  Authors
Zuhlke C, Dalski A, Hellenbroich Y, Bubel S, Schwinger E, Burk K
  Title
Spinocerebellar ataxia type 1 (SCA1): phenotype-genotype correlation studies in intermediate alleles.
  Journal
Eur J Hum Genet 10:204-9 (2002)
DOI:10.1038/sj.ejhg.5200788
Reference
PMID:7951322
  Authors
Banfi S, Servadio A, Chung MY, Kwiatkowski TJ Jr, McCall AE, Duvick LA, Shen Y, Roth EJ, Orr HT, Zoghbi HY
  Title
Identification and characterization of the gene causing type 1 spinocerebellar ataxia.
  Journal
Nat Genet 7:513-20 (1994)
DOI:10.1038/ng0894-513
Reference
PMID:8358429
  Authors
Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, McCall AE, Duvick LA, Ranum LP, Zoghbi HY
  Title
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1.
  Journal
Nat Genet 4:221-6 (1993)
DOI:10.1038/ng0793-221

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