WDR81 gene homepage

General information
Gene symbol WDR81
Gene name WD repeat domain 81
Chromosome 17
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_032811.1
Transcript reference NM_001163809.1
Exon/intron information NM_001163809.1 exon/intron table
Associated with diseases CAMRQ-2, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 53
Unique public DNA variants reported 49
Individuals with public variants 3
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 September 14, 2016
Version WDR81:160914

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_001163809.1.
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 http://www.LOVD.nl/WDR81
HGNC 26600
Entrez Gene 124997
PubMed articles WDR81
OMIM - Gene 614218
OMIM - Diseases CAMRQ-2 (ataxia, cerebellar, mental retardation, and dysequilibrium syndrome, type 2 (CAMRQ-2))
HGMD WDR81
GeneCards WDR81
GeneTests WDR81


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024143 17 transcript variant 1 NM_001163809.1 NP_001157281.1 53


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