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

98 papers

NM_152296.5

p.E818K

c.2452G>A

NM_001256214.2

p.E831K

c.2491G>A

Surrounding Variants

1 paper

NM_152296.5

p.E818Q

c.2452G>C

1 paper

NM_152296.5

p.E818A

c.2453A>C

130 papers

NM_152296.5

p.E815K

c.2443G>A

NM_001256213.2

p.E826K

c.2476G>A

NM_001256214.2

p.E828K

c.2482G>A

9 papers

NM_152296.5

p.A813V

c.2438C>T

15 papers

NM_152296.5

p.S811P

c.2431T>C

17 papers

NM_152296.5

p.I810S

c.2429T>G

1 paper

NM_152296.5

p.I810T

c.2429T>C

34 papers

NM_152296.5

p.I810N

c.2429T>A

15 papers

NM_152296.5

p.I810F

c.2428A>T

1 paper

NM_152296.5

p.A809D

c.2426C>A

2 papers

NM_152296.5

p.A809P

c.2425G>C

1 paper

NM_152296.5

p.R827W

c.2479A>T