KEGG   VARIANT: 476v1
Entry
476v1                      Variant                                 

Name
ATP1A1 mutation
Gene
ATP1A1  ATPase Na+/K+ transporting subunit alpha 1 [KO:K01539]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation L104R
ClinVar: 162466
dbSNP: rs11540945
Variation
mutation V332G
ClinVar: 162468
dbSNP: rs724160010
Variation
mutation F100_L104del
ClinVar: 162465
dbSNP: rs724160008
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
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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