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.M740I

c.2220G>T

Surrounding Variants

1 paper

NM_144699.4

p.M740I

c.2220G>A

1 paper

NM_144699.4

p.M740I

c.2220G>C

1 paper

NM_144699.4

p.G737A

c.2210G>C

1 paper

NM_144699.4

p.D746E

c.2238C>G

1 paper

NM_144699.4

p.S748S

c.2244T>A

2 papers

NM_144699.4

p.G724R

c.2170G>A

2 papers

NM_144699.4

p.G724R

c.2170G>C

1 paper

NM_144699.4

p.A762delFs

c.2285delC

2 papers

NM_144699.4

p.V717I

c.2149G>A

1 paper

NM_144699.4

p.G767R

c.2299G>A

1 paper

NM_144699.4

p.G767R

c.2299G>C

1 paper

NM_144699.4

p.E709D

c.2127G>C