The WFS1 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol WFS1
Gene name Wolfram syndrome 1 (wolframin)
Chromosome 4
Chromosomal band p16.1
Imprinted Unknown
Genomic reference NG_011700.1
Transcript reference NM_006005.3
Exon/intron information NM_006005.3 exon/intron table
Associated with diseases CTRCT-41, NIDDM, WFS1, WFSL, WFS1-Related Disorders
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 664
Unique public DNA variants reported 507
Individuals with public variants 437
Hidden variants 99
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Date created May 27, 2011
Date last updated June 04, 2021
Version WFS1:210604

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_006005.3.
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 http://www.LOVD.nl/WFS1
HGNC 12762
Entrez Gene 7466
PubMed articles WFS1
OMIM - Gene 606201
OMIM - Diseases CTRCT-41 (cataract, type 41 (CTRCT-41, congenital nuclear type))
NIDDM (diabetes mellitus, noninsulin-dependent (NIDDM))
WFS1 (syndrome, Wolfram, type 1 (WFS1))
WFSL (Wolfram-like syndrome, autosomal dominant (WFSL))
WFS1-Related Disorders
HGMD WFS1
GeneCards WFS1
GeneTests WFS1
Orphanet WFS1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023835 4 transcript variant 1 NM_006005.3 NP_005996.2 664


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The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2011-2021. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

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