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

Selected Variant

76 papers

NM_152296.5

p.G947R

c.2839G>C

Surrounding Variants

4 papers

NM_152296.5

p.G947W

c.2839G>T

78 papers

NM_152296.5

p.G947R

c.2839G>A

2 papers

NM_152296.5

p.G947E

c.2840G>A

1 paper

NM_152296.5

p.E951Q

c.2851G>C

12 papers

NM_152296.5

p.E951K

c.2851G>A

1 paper

NM_152296.5

p.E951A

c.2852A>C

17 papers

NM_152296.5

p.A955D

c.2864C>A

3 papers

NM_152296.5

p.P962H

c.2885C>A

1 paper

NM_152296.5

p.G963S

c.2887G>A

1 paper

NM_152296.5

p.G963D

c.2888G>A

1 paper

NM_152296.5

p.D965H

c.2893G>C

1 paper

NM_152296.5

p.D965N

c.2893G>A