ATXN1 gene homepage

General information
Gene symbol ATXN1
Gene name ataxin 1
Chromosome 6
Chromosomal band p23
Imprinted Unknown
Genomic reference NG_011571.1
Transcript reference NM_000332.3
Exon/intron information NM_000332.3 exon/intron table
Associated with diseases SCA-1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Willeke M.C. van Roon-Mom
Total number of public variants reported 55
Unique public DNA variants reported 34
Individuals with public variants 16
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated January 05, 2018
Version ATXN1:180105

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000332.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 10548
Entrez Gene 6310
PubMed articles ATXN1
OMIM - Gene 601556
OMIM - Diseases SCA-1 (ataxia, spinocerebellar, type 1 (SCA-1))
GeneCards ATXN1
GeneTests ATXN1

Active transcripts




NCBI ID     

NCBI Protein ID     

00003159 6 transcript variant 1 NM_000332.3 NP_000323.2 55

Copyright & disclaimer
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