KEGG   VARIANT: 492v1Help
Entry
492v1                      Variant                                 

Name
ATP2B3 mutation
Gene
ATP2B3  ATPase plasma membrane Ca2+ transporting 3 [KO:K05850]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation L425_V426del
ClinVar: 162469
dbSNP: rs724160011
Variation
mutation V426_V427del
ClinVar: 162470
dbSNP: rs724160012
Network
nt06316  Angiotensin-aldosterone signaling
  Element
N00305  Mutation-inactivated ATP2B3 to angiotensin-aldosterone signaling pathway
Reference
  Authors
Beuschlein F, Boulkroun S, Osswald A, Wieland T, Nielsen HN, Lichtenauer UD, Penton D, Schack VR, Amar L, Fischer E, Walther A, Tauber P, Schwarzmayr T, Diener S, Graf E, Allolio B, Samson-Couterie B, Benecke A, Quinkler M, Fallo F, Plouin PF, Mantero F, Meitinger T, Mulatero P, Jeunemaitre X, Warth R, Vilsen B, Zennaro MC, Strom TM, Reincke M
  Title
Somatic mutations in ATP1A1 and ATP2B3 lead to aldosterone-producing adenomas and secondary hypertension.
  Journal
Nat Genet 45:440-4, 444e1-2 (2013)
DOI:10.1038/ng.2550
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