Varaico: Literature-Extracted Genetic Variants

Gene:ATP1B2
Variant:p.L51P

ATP1B2

43 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 7–283UCSCSodium / potassium ATPase beta chain

Gene Aliases

HGNC Name

ATPase Na+/K+ transporting subunit beta 2

HGNC Alias Symbol

AMOG

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001678.5
p.L51P
c.152T>C
Surrounding Variants
1 paper
NM_001678.5
p.F47L
c.141T>A
1 paper
NM_001678.5
p.F47L
c.141T>G
1 paper
NM_001678.5
p.F47L
c.139T>C
1 paper
NM_001678.5
p.D68N
c.202G>A
1 paper
NM_001678.5
p.R76Q
c.227G>A
1 paper
NM_001678.5
p.P80P
c.240G>T
1 paper
NM_001678.5
p.G81D
c.242G>A
1 paper
NM_001678.5
p.N90I
c.269A>T
1 paper
NM_001678.5
p.D104G
c.311A>G
1 paper
NM_001678.5
p.P116Splc
c.346+1G>A
1 paper
NM_001678.5
p.Y117insFs
c.349dupT
1 paper
NM_001678.5
p.I121M
c.363C>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."