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.D923A

c.2768A>C

Surrounding Variants

22 papers

NM_152296.5

p.D923Y

c.2767G>T

71 papers

NM_152296.5

p.D923N

c.2767G>A

13 papers

NM_152296.5

p.L924P

c.2771T>C

18 papers

NM_152296.5

p.V919del1

c.2755_2756delGAC

9 papers

NM_152296.5

p.C927F

c.2780G>T

14 papers

NM_152296.5

p.C927Y

c.2780G>A

1 paper

NM_152296.5

p.C927C

c.2781C>T

10 papers

NM_152296.5

p.C927W

c.2781C>G

2 papers

NM_152296.5

p.V917_V918del1

c.2751_2753delACA

2 papers

NM_152296.5

p.R930W

c.2788C>T

1 paper

NM_001256213.2

p.I927M

c.2781C>G

1 paper

NM_152296.5

p.R930P

c.2789G>C