KEGG   VARIANT: 65125v2
Entry
65125v2                      Variant                               
Name
WNK1 gain of function mutation
Type
Gain 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
H00243  Hyperkalemic distal renal tubular acidosis (RTA type 4)
Reference
PMID:11498583
  Authors
Wilson FH, Disse-Nicodeme S, Choate KA, Ishikawa K, Nelson-Williams C, Desitter I, Gunel M, Milford DV, Lipkin GW, Achard JM, Feely MP, Dussol B, Berland Y, Unwin RJ, Mayan H, Simon DB, Farfel Z, Jeunemaitre X, Lifton RP
  Title
Human hypertension caused by mutations in WNK kinases.
  Journal
Science 293:1107-12 (2001)
DOI:10.1126/science.1062844
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