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.L263L

c.787C>T

Surrounding Variants

1 paper

NM_001256213.2

p.L274Q

c.821T>A

1 paper

NM_152296.5

p.A264V

c.791C>T

1 paper

NM_152296.5

p.G266E

c.797G>A

1 paper

NM_152296.5

p.T255_G258del0

c.765_773del9

1 paper

NM_152296.5

p.R254insFs

c.761_762ins4

1 paper

NM_152296.5

p.R254H

c.761G>A

1 paper

NM_152296.5

p.T272fs

c.814_815fs

1 paper

NM_152296.5

p.T272A

c.814A>G

1 paper

NM_152296.5

p.G252G

c.756C>T

16 papers

NM_152296.5

p.G252A

c.755G>C

9 papers

NM_152296.5

p.G252D

c.755G>A

1 paper

NM_152296.5

p.G252C

c.754G>T