Varaico: Literature-Extracted Genetic Variants

ATP1B4

31 papers

RefSeq Summary

This gene has been found in all vertebrate genomes sequenced to date. However, this gene has undergone a change in function in placental mammals compared to other species. Specifically, in fish, avian...

Pfam Domains

Na_K-ATPaseaa 79–351UCSCSodium / potassium ATPase beta chain

Gene Aliases

HGNC Name

ATPase Na+/K+ transporting family member beta 4

HGNC Previous Names

ATPase, (Na+)/K+ transporting, beta 4 polypeptide; ATPase, Na+/K+ transporting, beta 4 polypeptide

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001142447.3

p.L249L

c.745C>T

Surrounding Variants

1 paper

NM_001142447.3

p.P245L

c.734C>T

1 paper

NM_001142447.3

p.Q244K

c.730C>A

1 paper

NM_001142447.3

p.T242N

c.725C>A

1 paper

NM_001142447.3

p.T242A

c.724A>G

1 paper

NM_001142447.3

p.R224H

c.671G>A

1 paper

NM_001142447.3

p.R253_I254Splc

c.760-43T>C

1 paper

NM_001142447.3

p.R258C

c.772C>T

1 paper

NM_001142447.3

p.G274V

c.821G>T

1 paper

NM_001142447.3

p.R280*

c.838C>T

1 paper

NM_001142447.3

p.Y295H

c.883T>C

1 paper

NM_001142447.3

p.Y298N

c.892T>A

1 paper

NM_001142447.3

p.T308S

c.922A>T