Varaico: Literature-Extracted Genetic Variants

ATP1A4

136 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 51–119UCSCCation transporter/ATPase, N-terminus

E1-E2_ATPaseaa 171–283UCSCP-type ATPase actuator domain

Cation_ATPaseaa 425–604UCSCP-type ATPase, cytoplasmic domain N

Cation_ATPase_Caa 805–1014UCSCCation transporting ATPase, C-terminus

Gene Aliases

HGNC Name

ATPase Na+/K+ transporting subunit alpha 4

HGNC Previous Symbol

ATP1AL2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_144699.4

p.R181Q

c.542G>A

Surrounding Variants

1 paper

NM_144699.4

p.V193L

c.577G>T

1 paper

NM_144699.4

p.D197fs

c.589_590fs

1 paper

NM_144699.4

p.D197A

c.590A>C

1 paper

NM_144699.4

p.V199V

c.597G>A

1 paper

NM_144699.4

p.V207I

c.619G>A

1 paper

NM_144699.4

p.Q217insFs

c.649dupC

1 paper

NM_144699.4

p.Q217delFs

c.649delC

1 paper

NM_144699.4

p.S230L

c.689C>T

1 paper

NM_144699.4

p.P232A

c.694C>G

2 papers

NM_144699.4

p.R235H

c.704G>A

1 paper

NM_144699.4

p.S236F

c.707C>T

1 paper

NM_144699.4

p.T240S

c.718A>T