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.Q29K

c.85C>A

Surrounding Variants

1 paper

NM_001142447.3

p.A27V

c.80C>T

1 paper

NM_001142447.3

p.E26K

c.76G>A

2 papers

NM_001142447.3

p.T46M

c.137C>T

1 paper

NM_001142447.3

p.V48A

c.143T>C

1 paper

NM_001142447.3

p.W83*

c.248G>A

1 paper

NM_001142447.3

p.W83*

c.249G>A

1 paper

NM_001142447.3

p.A121D

c.362C>A

1 paper

NM_001142447.3

p.P140L

c.419C>T

1 paper

NM_001142447.3

p.R148L

c.443G>T

1 paper

NM_001142447.3

p.S16T

c.47G>C

1 paper

NM_001142447.3

p.P172H

c.515C>A

1 paper

NM_001142447.3

p.Q187R

c.560A>G