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

2 papers

NM_152296.5

p.G600C

c.1798G>T

Surrounding Variants

2 papers

NM_152296.5

p.A599T

c.1795G>A

1 paper

NM_152296.5

p.I601F

c.1801A>T

1 paper

NM_152296.5

p.K595_S598del0

c.1784_1792del9

6 papers

NM_152296.5

p.R597P

c.1790G>C

3 papers

NM_152296.5

p.R597H

c.1790G>A

NM_001256214.2

p.R610H

c.1829G>A

3 papers

NM_152296.5

p.C596Y

c.1787G>A

9 papers

NM_152296.5

p.C596R

c.1786T>C

1 paper

NM_152296.5

p.A592A

c.1776G>A

1 paper

NM_152296.5

p.A592E

c.1775C>A

5 papers

NM_152296.5

p.D591V

c.1772A>T

4 papers

NM_152296.5

p.V589F

c.1765G>T

2 papers

NM_152296.5

p.A588T

c.1762G>A