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

4 papers

NM_144699.4

p.E297K

c.889G>A

Surrounding Variants

1 paper

NM_144699.4

p.A294V

c.881C>T

1 paper

NM_144699.4

p.A294S

c.880G>T

1 paper

NM_144699.4

p.V305M

c.913G>A

2 papers

NM_144699.4

p.V306M

c.916G>A

1 paper

NM_144699.4

p.T282T

c.846G>A

3 papers

NM_144699.4

p.T282M

c.845C>T

1 paper

NM_144699.4

p.A316V

c.947C>T

1 paper

NM_144699.4

p.R277I

c.830G>T

1 paper

NM_144699.4

p.V274A

c.821T>C

1 paper

NM_144699.4

p.G324D

c.971G>A

1 paper

NM_144699.4

p.T269M

c.806C>T

1 paper

NM_144699.4

p.L326Q

c.977T>A