The ATXN3L gene homepage

General information
Gene symbol ATXN3L
Gene name ataxin 3-like
Chromosome X
Chromosomal band p22
Imprinted Unknown
Genomic reference NG_021356.1
Transcript reference NM_001135995.1
Associated with diseases -
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 13
Unique public DNA variants reported 13
Individuals with public variants 84
Hidden variants 3
Notes This gene sequence variant database has been initiated based on the data reported by Tarpey et al. (2009) A systematic, large-scale resequencing screen of the X-chromosome coding exons in mental retardation. Nat.Genet. 41: 535-543. Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated July 17, 2020
Version ATXN3L:200717

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 24173
Entrez Gene 92552
PubMed articles ATXN3L
OMIM - Gene 300920
Orphanet ATXN3L


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00003164 X ataxin 3-like NM_001135995.1 NP_001129467.1 13


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