KEGG   VARIANT: 776v1
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
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