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

3 papers

NM_144699.4

p.D685H

c.2053G>C

Surrounding Variants

1 paper

NM_144699.4

p.Q683H

c.2049G>C

1 paper

NM_144699.4

p.Q683H

c.2049G>T

1 paper

NM_144699.4

p.H691N

c.2071C>A

1 paper

NM_144699.4

p.E675A

c.2024A>C

1 paper

NM_144699.4

p.E675V

c.2024A>T

1 paper

NM_144699.4

p.I694M

c.2082C>G

1 paper

NM_144699.4

p.H672P

c.2015A>C

1 paper

NM_144699.4

p.L705F

c.2113C>T

1 paper

NM_144699.4

p.I706F

c.2116A>T

1 paper

NM_144699.4

p.E709D

c.2127G>C

1 paper

NM_144699.4

p.E709D

c.2127G>T

2 papers

NM_144699.4

p.V717I

c.2149G>A