Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.P57S

EBP

594 papers

RefSeq Summary

The protein encoded by this gene is an integral membrane protein of the endoplasmic reticulum. It is a high affinity binding protein for the antiischemic phenylalkylamine Ca2+ antagonist [3H]emopamil ...

Pfam Domains

EBPaa 96–207UCSCEXPERA (EXPanded EBP superfamily)

Gene Aliases

HGNC Name

EBP cholestenol delta-isomerase

HGNC Previous Symbol

CDPX2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006579.3
p.P57S
c.169C>T
Surrounding Variants
1 paper
NM_006579.3
p.V56V
c.168C>T
1 paper
NM_006579.3
p.P57P
c.171A>T
1 paper
NM_006579.3
p.V56_R62del0
c.168_185del18
4 papers
NM_006579.3
p.V56insFs
c.167_168insT
1 paper
NM_006579.3
p.V55V
c.165T>C
1 paper
NM_006579.3
p.G59E
c.176G>A
2 papers
NM_006579.3
p.T60P
c.178A>C
1 paper
NM_006579.3
p.T60A
c.178A>G
1 paper
NM_006579.3
p.A53G
c.158C>G
1 paper
NM_006579.3
p.A53V
c.158C>T
1 paper
NM_006579.3
p.T60T
c.180T>C
2 papers
NM_006579.3
p.A53T
c.157G>A
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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."