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

1–12 of 204 variants

8 papers

NM_144699.4

p.M541R

c.1622T>G

5 papers

NM_144699.4

p.G83D

c.248G>A

4 papers

NM_144699.4

p.E297K

c.889G>A

4 papers

NM_144699.4

p.P600S

c.1798C>T

4 papers

NM_144699.4

p.K611R

c.1832A>G

3 papers

NM_144699.4

p.R248Q

c.743G>A

3 papers

NM_144699.4

p.T282M

c.845C>T

3 papers

NM_144699.4

p.R431G

c.1291C>G

3 papers

NM_144699.4

p.D685H

c.2053G>C

2 papers

NM_144699.4

p.V65M

c.193G>A

2 papers

NM_144699.4

p.P174S

c.520C>T

2 papers

NM_144699.4

p.R181Q

c.542G>A