KEGG   VARIANT: 65125v1
Entry
65125v1                      Variant                               
Name
WNK1 mutation
Type
Loss of function
Gene
WNK1  WNK lysine deficient protein kinase 1 [KO:K08867]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 605232
Network
nt06325  Hormone/cytokine signaling
Disease
H00265  Hereditary sensory and autonomic neuropathy
Reference
  Authors
Shekarabi M, Girard N, Riviere JB, Dion P, Houle M, Toulouse A, Lafreniere RG, Vercauteren F, Hince P, Laganiere J, Rochefort D, Faivre L, Samuels M, Rouleau GA
  Title
Mutations in the nervous system--specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II.
  Journal
J Clin Invest 118:2496-505 (2008)
DOI:10.1172/JCI34088
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