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

1 paper

NM_144699.4

p.L140R

c.419T>G

Surrounding Variants

1 paper

NM_144699.4

p.L138L

c.414C>G

1 paper

NM_144699.4

p.V146I

c.436G>A

1 paper

NM_144699.4

p.V150I

c.448G>A

1 paper

NM_144699.4

p.C153Y

c.458G>A

1 paper

NM_144699.4

p.K161Q

c.481A>C

1 paper

NM_144699.4

p.S163F

c.488C>T

1 paper

NM_144699.4

p.V173_P174insA

c.517_521ins3

1 paper

NM_144699.4

p.V173G

c.518T>G

2 papers

NM_144699.4

p.P174S

c.520C>T

1 paper

NM_144699.4

p.Q175_Q176insG

c.523_527ins3

1 paper

NM_144699.4

p.Q126H

c.378G>C

1 paper

NM_144699.4

p.Q126H

c.378G>T