Varaico: Literature-Extracted Genetic Variants

Gene:ATP2B4
Variant:p.M1T

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.M1T
c.2T>C
Surrounding Variants
1 paper
NM_001684.5
p.M1insFs
c.2_3insC
1 paper
NM_001684.5
p.M1insFs
c.3dupG
1 paper
NM_001684.5
p.M1insFs
c.2dupT
1 paper
NM_001684.5
p.M1delFs
c.2delT
2 papers
NM_001684.5
p.E16K
c.46G>A
2 papers
NM_001684.5
p.R18C
c.52C>T
1 paper
NM_001684.5
p.R18H
c.53G>A
1 paper
NM_001684.5
p.C24*
c.72C>A
2 papers
NM_001684.5
p.M33L
c.97A>C
2 papers
NM_001684.5
p.M33L
c.97A>T
4 papers
NM_001684.5
p.V46I
c.136G>A
1 paper
NM_001684.5
p.Y48_G49del1
c.143_145delATG
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