Varaico: Literature-Extracted Genetic Variants

Gene:EBP

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
1–12 of 335 variants
17 papers
NM_006579.3
p.R147H
c.440G>A
16 papers
NM_006579.3
p.L18P
c.53T>C
14 papers
NM_006579.3
p.E80K
c.238G>A
11 papers
NM_006579.3
p.R110Q
c.329G>A
10 papers
NM_006579.3
p.R63*
c.187C>T
10 papers
NM_006579.3
p.R110*
c.328C>T
9 papers
NM_006579.3
p.R62W
c.184C>T
9 papers
NM_006579.3
p.Q151*
c.451C>T
8 papers
NM_006579.3
p.W47C
c.141G>T
8 papers
NM_006579.3
p.L66P
c.197T>C
7 papers
NM_006579.3
p.W47C
c.141G>C
7 papers
NM_006579.3
p.W68*
c.203G>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."