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.L67L

c.201G>C

Surrounding Variants

2 papers

NM_144699.4

p.V65M

c.193G>A

1 paper

NM_144699.4

p.E58insFs

c.173_174insA

1 paper

NM_144699.4

p.D50N

c.148G>A

1 paper

NM_144699.4

p.R33M

c.98G>T

1 paper

NM_144699.4

p.K32N

c.96G>C

1 paper

NM_144699.4

p.K32N

c.96G>T

1 paper

NM_144699.4

p.M30I

c.90G>A

1 paper

NM_144699.4

p.M30I

c.90G>C

1 paper

NM_144699.4

p.M30I

c.90G>T

1 paper

NM_144699.4

p.I26N

c.77T>A

1 paper

NM_144699.4

p.K23K

c.69A>G

1 paper

NM_144699.4

p.R19*

c.55C>T