KEGG   VARIANT: 8912v1
Entry
8912v1                      Variant                                

Name
CACNA1H mutation
Gene
CACNA1H  calcium voltage-gated channel subunit alpha1 H [KO:K04855]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607904
Network
nt06316  Angiotensin-aldosterone signaling
  Element
N00302  Mutation-activated CACNA1D/H to angiotensin-aldosterone signaling pathway
Reference
  Authors
Dutta RK, Soderkvist P, Gimm O
  Title
Genetics of primary hyperaldosteronism.
  Journal
Endocr Relat Cancer 23:R437-54 (2016)
DOI:10.1530/ERC-16-0055
Reference
  Authors
Scholl UI, Stolting G, Nelson-Williams C, Vichot AA, Choi M, Loring E, Prasad ML, Goh G, Carling T, Juhlin CC, Quack I, Rump LC, Thiel A, Lande M, Frazier BG, Rasoulpour M, Bowlin DL, Sethna CB, Trachtman H, Fahlke C, Lifton RP
  Title
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronism.
  Journal
Elife 4:e06315 (2015)
DOI:10.7554/eLife.06315
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