Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.W68*

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
7 papers
NM_006579.3
p.W68*
c.203G>A
Surrounding Variants
7 papers
NM_006579.3
p.W68*
c.204G>A
4 papers
NM_006579.3
p.W68C
c.204G>C
4 papers
NM_006579.3
p.W68C
c.204G>T
1 paper
NM_006579.3
p.W68G
c.202T>G
1 paper
NM_006579.3
p.F69S
c.206T>C
2 papers
NM_006579.3
p.C67R
c.199T>C
2 papers
NM_006579.3
p.L66L
c.198G>A
8 papers
NM_006579.3
p.L66P
c.197T>C
1 paper
NM_006579.3
p.V71V
c.213G>A
1 paper
NM_006579.3
p.C72S
c.214T>A
3 papers
NM_006579.3
p.C72R
c.214T>C
2 papers
NM_006579.3
p.C72fs
c.214_215fs
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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."