The WNK1 gene homepage

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
General information
Gene symbol WNK1
Gene name WNK lysine deficient protein kinase 1
Chromosome 12
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_007984.3
Transcript reference NM_018979.3, NM_213655.4
Exon/intron information NM_018979.3 exon/intron table
Associated with diseases HSAN2A, PHA2C
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 214
Unique public DNA variants reported 136
Individuals with public variants 444
Hidden variants 13
Download all this gene's data Download all data
Notes This database is one of the gene variant databases from the:.
Variants involved in Inherited Peripheral Neuropathies are also collected by the IPNMDB. All variants submitted here will be shared with the IPNMDB.
Date created May 23, 2012
Date last updated April 16, 2023
Version WNK1:230416

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_018979.3.
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 14540
Entrez Gene 65125
PubMed articles WNK1
OMIM - Gene 605232
OMIM - Diseases HSAN2A (neuropathy, sensory and autonomic, hereditary, type IIA (HSAN-2A))
PHA2C (pseudohypoaldosteronism type 2C (PHA-2C))
GeneCards WNK1
GeneTests WNK1
Orphanet WNK1

Active transcripts




NCBI ID     

NCBI Protein ID     

00022847 12 transcript variant 1 NM_018979.3 NP_061852.3 214
00025466 12 transcript variant 3 NM_213655.4 NP_998820.3 188

Copyright & disclaimer
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 © 2012-2023. 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.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.