WNK1 Chromosome 12
WNK lysine deficient protein kinase 1
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What This Gene Does
This gene encodes a member of the WNK subfamily of serine/threonine protein kinases. The encoded protein may be a key regulator of blood pressure by controlling the transport of sodium and chloride ions. Mutations in this gene have been associated with pseudohypoaldosteronism type II and hereditary sensory neuropathy type II. Alternatively spliced transcript variants encoding different isoforms have been described but the full-length nature of all of them has yet to be determined.[provided by RefSeq, May 2010]
Gene Info
Gene Group
"Protein phosphatase 1 regulatory subunits|Minor histocompatibility antigens|WNK lysine deficient protein kinases"
Locus Type
gene with protein product
Location
12p13.33
Ensembl
ENSG00000060237
Associated Conditions (10)
Pseudohypoaldosteronism type 2C
Neuropathy
hereditary sensory and autonomic
type 2A
Inborn genetic diseases
WNK1-related disorder
Charcot-Marie-Tooth disease
Ovarian serous cystadenocarcinoma
Malignant tumor of urinary bladder
Hereditary neuropathy or pain disorder
Key Variants
RS117016551
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic
Health Risk
RS1307515994
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic
Health Risk
RS138216561
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2A
Health Risk
RS139449198
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2A
Health Risk
RS1395162926
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2A
Health Risk
RS1409690582
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2A
Health Risk
RS142787842
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2A
Health Risk
RS143361850
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic
Health Risk
RS1443431827
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2A
Health Risk
RS144574284
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2A
Health Risk
RS1446171264
Conflicting classifications of pathogenicity
Neuropathy, hereditary sensory and autonomic, type 2A
Health Risk
RS146042595
Conflicting classifications of pathogenicity
Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic
Health Risk
All Variants (151)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS72649848 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS72649856 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS72650717 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS72650720 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS72650763 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS72650764 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS72650768 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS74056058 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS747140718 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS747791200 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS751787202 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS752078094 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS752492830 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS753078534 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS753342253 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS754447060 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS756614581 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS758763241 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS759764709 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS759895083 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS760615496 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS761380468 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS762015494 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS762925275 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS763686798 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS763829194 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS763932979 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Neuropathy, hereditary sensory and autonomic |
| RS770566791 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS770568108 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS770977819 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS771546256 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS771801197 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS772922134 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Inborn genetic diseases, Pseudohypoaldosteronism type 2C |
| RS773586473 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS775564750 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS777517901 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS778613425 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS781667314 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS786205473 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS910119961 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS920732487 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS935728437 | Health Risk | Conflicting classifications of pathogenicity | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS955095527 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS999299058 | Health Risk | Conflicting classifications of pathogenicity | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS1247907206 | Health Risk | Likely pathogenic | — |
| RS2154096075 | Health Risk | Likely pathogenic | Pseudohypoaldosteronism type 2C, Neuropathy, hereditary sensory and autonomic |
| RS2548597368 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS2548836529 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS2549037336 | Health Risk | Likely pathogenic | Neuropathy, hereditary sensory and autonomic, type 2A |
| RS746484082 | Health Risk | Likely pathogenic | Pseudohypoaldosteronism type 2C, Pseudohypoaldosteronism type 2C |