The 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_001163673.1, NM_001163809.1, NM_001163811.1, NM_152348.3, XM_005256454.1, XM_005256455.1, XM_005256456.1
Associated with diseases CAMRQ-2, ID
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 285
Unique public DNA variants reported 24
Individuals with public variants 35
Hidden variants 160
Date created October 30, 2013
Date last updated September 28, 2016
Version WDR81:160928

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC 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     
00008743 17 transcript variant 1 NM_001163809.1 NP_001157281.1 285
00020432 17 Manually created transcript. (removed from reference sequence) NM_152348.3 - 285
00027650 17 Manually created transcript NM_001163811.1 - 285
00020431 17 Manually created transcript. (removed from reference sequence) NM_001163673.1 - 200
00038078 17 transcript variant X3 XM_005256456.1 XP_005256513.1 -
00038079 17 transcript variant X2 XM_005256455.1 XP_005256512.1 -
00038080 17 transcript variant X1 XM_005256454.1 XP_005256511.1 -


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