Varaico: Literature-Extracted Genetic Variants

Gene:ATP1B2
Variant:p.F248L

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.F248L
c.742T>C
Surrounding Variants
1 paper
NM_001678.5
p.F248L
c.744C>A
1 paper
NM_001678.5
p.F248L
c.744C>G
1 paper
NM_001678.5
p.T240A
c.718A>G
1 paper
NM_001678.5
p.T240S
c.718A>T
1 paper
NM_001678.5
p.V237M
c.709G>A
2 papers
NM_001678.5
p.I263M
c.789C>G
1 paper
NM_001678.5
p.N264N
c.792C>T
1 paper
NM_001678.5
p.A265T
c.793G>A
1 paper
NM_001678.5
p.A269T
c.805G>A
1 paper
NM_001678.5
p.R274Q
c.821G>A
1 paper
NM_001678.5
p.F277F
c.831C>T
1 paper
NM_001678.5
p.R286H
c.857G>A
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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."