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

5 papers

NM_144699.4

p.G83D

c.248G>A

Surrounding Variants

1 paper

NM_144699.4

p.T81S

c.242C>G

1 paper

NM_144699.4

p.A76S

c.226G>T

1 paper

NM_144699.4

p.T93P

c.277A>C

1 paper

NM_144699.4

p.S72G

c.214A>G

1 paper

NM_144699.4

p.T94T

c.282T>A

1 paper

NM_144699.4

p.S109Y

c.326C>A

1 paper

NM_144699.4

p.A116V

c.347C>T

1 paper

NM_144699.4

p.Q126H

c.378G>C

1 paper

NM_144699.4

p.Q126H

c.378G>T

1 paper

NM_144699.4

p.K69_G70Splc

c.208-146T>C

1 paper

NM_144699.4

p.L138L

c.414C>G

1 paper

NM_144699.4

p.L140R

c.419T>G