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.G324D

c.971G>A

Surrounding Variants

1 paper

NM_144699.4

p.L326Q

c.977T>A

1 paper

NM_144699.4

p.E327K

c.979G>A

2 papers

NM_144699.4

p.A328G

c.983C>G

1 paper

NM_144699.4

p.I329V

c.985A>G

1 paper

NM_144699.4

p.I330fs

c.988_989fs

1 paper

NM_144699.4

p.I330delFs

c.989delT

1 paper

NM_144699.4

p.I330T

c.989T>C

1 paper

NM_144699.4

p.L332I

c.994C>A

1 paper

NM_144699.4

p.A316V

c.947C>T

1 paper

NM_144699.4

p.V337L

c.1009G>C

1 paper

NM_144699.4

p.V337L

c.1009G>T

1 paper

NM_144699.4

p.V337G

c.1010T>G