Varaico: Literature-Extracted Genetic Variants

Gene:ATP4B
Variant:p.L251P

ATP4B

29 papers

RefSeq Summary

The protein encoded by this gene belongs to a family of P-type cation-transporting ATPases. The gastric H+, K+-ATPase is a heterodimer consisting of a high molecular weight catalytic alpha subunit and...

Pfam Domains

Na_K-ATPaseaa 7–285UCSCSodium / potassium ATPase beta chain

Gene Aliases

HGNC Name

ATPase H+/K+ transporting subunit beta

HGNC Alias Symbol

ATP6B

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000705.4
p.L251P
c.752T>C
Surrounding Variants
2 papers
NM_000705.4
p.A248V
c.743C>T
1 paper
NM_000705.4
p.L245fs
c.733_734fs
1 paper
NM_000705.4
p.A260T
c.778G>A
1 paper
NM_000705.4
p.A260V
c.779C>T
3 papers
NM_000705.4
p.A267A
c.801G>A
1 paper
NM_000705.4
p.R208H
c.623G>A
1 paper
NM_000705.4
p.L204fs
c.610_611fs
1 paper
NM_000705.4
p.L204delFs
c.610delG
1 paper
NM_000705.4
p.A202V
c.605C>T
1 paper
NM_000705.4
p.G194D
c.581G>A
1 paper
NM_000705.4
p.M183T
c.548T>C
1 paper
NM_000705.4
p.E173G
c.518A>G
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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."