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.T286A

c.856A>G

Surrounding Variants

1 paper

NM_152296.5

p.I282F

c.844A>T

3 papers

NM_152296.5

p.L292R

c.875T>G

1 paper

NM_001256213.2

p.G304S

c.910G>A

34 papers

NM_152296.5

p.E277K

c.829G>A

1 paper

NM_001256214.2

p.F309S

c.926T>C

2 papers

NM_152296.5

p.A275P

c.823G>C

22 papers

NM_152296.5

p.I274T

c.821T>C

25 papers

NM_152296.5

p.I274N

c.821T>A

1 paper

NM_152296.5

p.I298L

c.892A>C

2 papers

NM_152296.5

p.F297del1

c.889_890delGAA

1 paper

NM_152296.5

p.T272fs

c.814_815fs

1 paper

NM_152296.5

p.T272A

c.814A>G