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.D424Y

c.1270G>T

Surrounding Variants

1 paper

NM_144699.4

p.T425S

c.1273A>T

1 paper

NM_144699.4

p.T425S

c.1274C>G

2 papers

NM_144699.4

p.S422T

c.1265G>C

1 paper

NM_144699.4

p.W426S

c.1277G>C

1 paper

NM_144699.4

p.L429L

c.1285C>T

3 papers

NM_144699.4

p.R431G

c.1291C>G

1 paper

NM_144699.4

p.F441L

c.1321T>C

1 paper

NM_144699.4

p.F441L

c.1323T>A

1 paper

NM_144699.4

p.F441L

c.1323T>G

1 paper

NM_144699.4

p.D409N

c.1225G>A

1 paper

NM_144699.4

p.A397T

c.1189G>A

1 paper

NM_144699.4

p.R393H

c.1178G>A