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

1 paper

NM_152296.5

p.L798H

c.2393T>A

Surrounding Variants

1 paper

NM_152296.5

p.I797I

c.2391C>T

3 papers

NM_001256214.2

p.I810N

c.2429T>A

49 papers

NM_152296.5

p.D801Y

c.2401G>T

3 papers

NM_152296.5

p.D801H

c.2401G>C

129 papers

NM_152296.5

p.D801N

c.2401G>A

NM_001256213.2

p.D812N

c.2434G>A

NM_001256214.2

p.D814N

c.2440G>A

7 papers

NM_152296.5

p.D801V

c.2402A>T

1 paper

NM_152296.5

p.D801G

c.2402A>G

1 paper

NM_152296.5

p.D801A

c.2402A>C

13 papers

NM_152296.5

p.D801E

c.2403T>G

1 paper

NM_152296.5

p.D801D

c.2403T>C

13 papers

NM_152296.5

p.D801E

c.2403T>A

4 papers

NM_001256214.2

p.L815R

c.2444T>G

NM_152296.5

p.L802R

c.2405T>G