Varaico: Literature-Extracted Genetic Variants

Gene:ATP2B4
Variant:p.V203V

ATP2B4

165 papers

RefSeq Summary

The protein encoded by this gene belongs to the family of P-type primary ion transport ATPases characterized by the formation of an aspartyl phosphate intermediate during the reaction cycle. These enz...

Gene Aliases

HGNC Name

ATPase plasma membrane Ca2+ transporting 4

HGNC Previous Symbol

MXRA1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_001684.5
p.V203V
c.609G>A
Surrounding Variants
1 paper
NM_001684.5
p.A204insFs
c.610_611ins4
1 paper
NM_001684.5
p.V203insFs
c.608_609insCG
1 paper
NM_001684.5
p.L201_P202insFs
c.603_604insG
1 paper
NM_001684.5
p.I206delFs
c.616delA
1 paper
NM_001684.5
p.Q197*
c.589C>T
1 paper
NM_001684.5
p.S191A
c.571T>G
2 papers
NM_001684.5
p.G217S
c.649G>A
1 paper
NM_001684.5
p.R178Q
c.533G>A
1 paper
NM_001684.5
p.D170N
c.508G>A
2 papers
NM_001684.5
p.S158L
c.473C>T
1 paper
NM_001684.5
p.N143_A145del3
c.427_434del9
1 paper
NM_001684.5
p.D141N
c.421G>A
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