Varaico: Literature-Extracted Genetic Variants

Gene:ATP2B4
Variant:p.D218delFs

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
1 paper
NM_001684.5
p.D218delFs
c.652delG
Surrounding Variants
3 papers
NM_001684.5
p.A222A
c.666A>T
1 paper
NM_001684.5
p.I225I
c.675C>A
1 paper
NM_001684.5
p.I227insFs
c.680dupT
1 paper
NM_001684.5
p.L239insFs
c.715dupC
2 papers
NM_001684.5
p.L239L
c.715C>T
1 paper
NM_001684.5
p.H245Y
c.733C>T
1 paper
NM_001684.5
p.V246I
c.736G>A
1 paper
NM_001684.5
p.G259R
c.775G>A
2 papers
NM_001684.5
p.G217S
c.649G>A
1 paper
NM_001684.5
p.I206delFs
c.616delA
2 papers
NM_001684.5
p.V203V
c.609G>A
1 paper
NM_001684.5
p.A204insFs
c.610_611ins4
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