Varaico: Literature-Extracted Genetic Variants

ATP1A3

583 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for estab...

Pfam Domains

Cation_ATPase_Naa 33–101UCSCCation transporter/ATPase, N-terminus

E1-E2_ATPaseaa 153–265UCSCP-type ATPase actuator domain

Cation_ATPaseaa 407–588UCSCP-type ATPase, cytoplasmic domain N

Cation_ATPase_Caa 789–998UCSCCation transporting ATPase, C-terminus

Gene Aliases

HGNC Name

ATPase Na+/K+ transporting subunit alpha 3

HGNC Previous Symbol

DYT12

Papers

RefSeq ID

Protein change

DNA change

1–12 of 585 variants

129 papers

NM_152296.5

p.D801N

c.2401G>A

128 papers

NM_152296.5

p.E815K

c.2443G>A

97 papers

NM_152296.5

p.E818K

c.2452G>A

78 papers

NM_152296.5

p.G947R

c.2839G>A

76 papers

NM_152296.5

p.G947R

c.2839G>C

71 papers

NM_152296.5

p.D923N

c.2767G>A

54 papers

NM_152296.5

p.T613M

c.1838C>T

51 papers

NM_152296.5

p.R756H

c.2267G>A

49 papers

NM_152296.5

p.D801Y

c.2401G>T

39 papers

NM_152296.5

p.R756C

c.2266C>T

34 papers

NM_152296.5

p.E277K

c.829G>A

34 papers

NM_152296.5

p.I810N

c.2429T>A