WNK1
This page contains an overview of the genetic variation in the WNK1 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:
WNK1 gene and transcript details
Gene Name
WNK lysine deficient protein kinase 1
Gene Links
Ensembl: ENSG00000060237 -
Locus Reference Genomic: LRG_247
Genomic Location
Chromosome 12 : 862,732 - 1,017,958 (forward strand)
View in: Ensembl -
UCSC Genome Browser
| Canonical Seqs | Transcript (7146 bases) | Protein (2382 aa) |
|---|---|---|
 |
ENST00000315939 | ENSP00000313059 |
 |
||
 |
NM_018979.3 | |
 |
Q9H4A3 |
Summary of WNK1 in Cardiomyopathies
WNK1 variants in ExAC
Details of the protein-altering WNK1 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 | 730 | 0.01098 |
| Truncating | 8 | 0.00010 |
| Missense | 668 | 0.01029 |
| Inframe | 10 | 0.00009 |
| Splice Site | 44 | 0.00049 |