KEGG   VARIANT: 776v1Help
Entry
776v1                      Variant                                 

Name
CACNA1D mutation
Gene
CACNA1D  calcium voltage-gated channel subunit alpha1 D [KO:K04851]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 114206
Network
nt06316  Angiotensin-aldosterone signaling
  Element
N00302  Mutation-activated CACNA1D/H to angiotensin-aldosterone signaling pathway
Reference
  Authors
Scholl UI, Goh G, Stolting G, de Oliveira RC, Choi M, Overton JD, Fonseca AL, Korah R, Starker LF, Kunstman JW, Prasad ML, Hartung EA, Mauras N, Benson MR, Brady T, Shapiro JR, Loring E, Nelson-Williams C, Libutti SK, Mane S, Hellman P, Westin G, Akerstrom G, Bjorklund P, Carling T, Fahlke C, Hidalgo P, Lifton RP
  Title
Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.
  Journal
Nat Genet 45:1050-4 (2013)
DOI:10.1038/ng.2695
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
Al-Salameh A, Cohen R, Desailloud R
  Title
Overview of the genetic determinants of primary aldosteronism.
  Journal
Appl Clin Genet 7:67-79 (2014)
DOI:10.2147/TACG.S45620
LinkDB All DBs

KEGG   VARIANT: 8912v1Help
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
LinkDB All DBs

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