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.E309*

c.925G>T

Surrounding Variants

1 paper

NM_152296.5

p.L308P

c.923T>C

1 paper

NM_152296.5

p.E309D

c.927G>T

1 paper

NM_152296.5

p.E309D

c.927G>C

1 paper

NM_001256213.2

p.V322D

c.965T>A

1 paper

NM_152296.5

p.G304R

c.910G>C

1 paper

NM_152296.5

p.G304R

c.910G>A

1 paper

NM_152296.5

p.L314L

c.942C>G

1 paper

NM_001256214.2

p.L327del1

c.979_980delGAG

17 papers

NM_152296.5

p.G316S

c.946G>A

3 papers

NM_152296.5

p.G316V

c.947G>T

1 paper

NM_152296.5

p.I318N

c.953T>A

4 papers

NM_152296.5

p.I318M

c.954C>G