Varaico: Literature-Extracted Genetic Variants

Gene:ATP2B4
Variant:p.E1140*

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.E1140*
c.3418G>T
Surrounding Variants
1 paper
NM_001684.5
p.R1144Q
c.3431G>A
1 paper
NM_001684.5
p.E1135Q
c.3403G>C
1 paper
NM_001684.5
p.E1150Q
c.3448G>C
1 paper
NM_001684.5
p.E1152V
c.3455A>T
1 paper
NM_001684.5
p.E1152E
c.3456G>A
3 papers
NM_001684.5
p.E1116K
c.3346G>A
1 paper
NM_001684.5
p.R1165K
c.3494G>A
1 paper
NM_001684.5
p.A1109V
c.3326C>T
1 paper
NM_001684.5
p.V1106delFs
c.3317delT
1 paper
NM_001684.5
p.A1177S
c.3529G>T
2 papers
NM_001684.5
p.S1194L
c.3581C>T
1 paper
NM_001684.5
p.S1196R
c.3586A>C
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