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.G554V

c.1661G>T

Surrounding Variants

1 paper

NM_144699.4

p.R558C

c.1672C>T

1 paper

NM_144699.4

p.Y549Y

c.1647C>T

8 papers

NM_144699.4

p.M541R

c.1622T>G

1 paper

NM_144699.4

p.N538D

c.1612A>G

1 paper

NM_144699.4

p.F528L

c.1584T>A

1 paper

NM_144699.4

p.F528L

c.1584T>G

1 paper

NM_144699.4

p.F528L

c.1582T>C

1 paper

NM_144699.4

p.H510Q

c.1530C>A

1 paper

NM_144699.4

p.H510Q

c.1530C>G

1 paper

NM_144699.4

p.S507S

c.1521C>T

1 paper

NM_144699.4

p.S507F

c.1520C>T

1 paper

NM_144699.4

p.D505N

c.1513G>A