Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.R147H

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
17 papers
NM_006579.3
p.R147H
c.440G>A
Surrounding Variants
1 paper
NM_006579.3
p.R147L
c.440G>T
6 papers
NM_006579.3
p.R147G
c.439C>G
2 papers
NM_006579.3
p.R147C
c.439C>T
2 papers
NM_006579.3
p.R147R
c.441C>T
1 paper
NM_006579.3
p.R147_F148delFs
c.440_443del4
3 papers
NM_006579.3
p.F148S
c.443T>C
1 paper
NM_006579.3
p.I149V
c.445A>G
9 papers
NM_006579.3
p.Q151*
c.451C>T
2 papers
NM_006579.3
p.Q151R
c.452A>G
2 papers
NM_006579.3
p.Q143*
c.427C>T
1 paper
NM_006579.3
p.R142H
c.425G>A
1 paper
NM_006579.3
p.R142L
c.425G>T
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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."