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

54 papers

NM_152296.5

p.T613M

c.1838C>T

Surrounding Variants

1 paper

NM_152296.5

p.P611S

c.1831C>T

1 paper

NM_152296.5

p.P611T

c.1831C>A

1 paper

NM_152296.5

p.A616T

c.1846G>A

2 papers

NM_152296.5

p.D609G

c.1826A>G

8 papers

NM_152296.5

p.D609Y

c.1825G>T

1 paper

NM_152296.5

p.D609N

c.1825G>A

1 paper

NM_152296.5

p.G608G

c.1824C>T

1 paper

NM_152296.5

p.D633insFs

c.1899dupC

1 paper

NM_152296.5

p.R637Q

c.1910G>A

1 paper

NM_152296.5

p.V642I

c.1924G>A

1 paper

NM_152296.5

p.I601F

c.1801A>T

2 papers

NM_152296.5

p.G600C

c.1798G>T