WNK4
This page contains an overview of the genetic variation in the WNK4 gene, including its role in inherited cardiac disease. For more details, click on the links below, or for a specific variant, enter the HGVS variant here:
WNK4 gene and transcript details
Gene Name
WNK lysine deficient protein kinase 4
Gene Links
Ensembl: ENSG00000126562 -
Locus Reference Genomic:
Genomic Location
Chromosome 17 : 40,932,717 - 40,948,706 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (3729 bases) | Protein (1243 aa) |
|---|---|---|
 |
ENST00000246914 | ENSP00000246914 |
 |
||
 |
NM_032387.4 | |
 |
Q96J92 |
Summary of WNK4 in Cardiomyopathies
WNK4 variants in ExAC
Details of the protein-altering WNK4 variants (missense, loss of function truncating, inframe indels and splice site regions) found in the ExAC database are shown below. To view lists of specific variants with links to detailed population frequency data, click on the variant numbers - for all or a particular variant class.
| Total Variants | Combined frequency of rare variants | |
|---|---|---|
| All Variants | 533 | 0.00835 |
| Truncating | 52 | 0.00072 |
| Missense | 434 | 0.00709 |
| Inframe | 8 | 0.00011 |
| Splice Site | 39 | 0.00043 |