Varaico: Literature-Extracted Genetic Variants

Gene:ATP1B1
Variant:p.V301I

ATP1B1

75 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of Na+/K+ and H+/K+ ATPases beta chain proteins, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsi...

Pfam Domains

Na_K-ATPaseaa 2–297UCSCSodium / potassium ATPase beta chain

Gene Aliases

HGNC Name

ATPase Na+/K+ transporting subunit beta 1

HGNC Previous Name

ATPase, Na+/K+ transporting, beta 1 polypeptide

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001677.4
p.V301I
c.901G>A
Surrounding Variants
1 paper
NM_001677.4
p.R290H
c.869G>A
1 paper
NM_001677.4
p.G280S
c.838G>A
2 papers
NM_001677.4
p.R273H
c.818G>A
1 paper
NM_001677.4
p.R273C
c.817C>T
1 paper
NM_001677.4
p.Q262fs
c.784_785fs
1 paper
NM_001677.4
p.Y254H
c.760T>C
1 paper
NM_001677.4
p.Y243_P244del2
c.727_731del6
1 paper
NM_001677.4
p.G231G
c.693A>T
1 paper
NM_001677.4
p.K221delFs
c.663delG
1 paper
NM_001677.4
p.K221fs
c.661_662fs
1 paper
NM_001677.4
p.D220N
c.658G>A
1 paper
NM_001677.4
p.P200P
c.600A>C
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