Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.L8S

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.L8S
c.23T>C
Surrounding Variants
1 paper
NM_006579.3
p.L8*
c.23T>A
1 paper
NM_006579.3
p.L8insFs
c.23dupT
2 papers
NM_006579.3
p.P10_N20del11
c.28_59del33
1 paper
NM_006579.3
p.G6_P7insFs
c.18_19insTT
1 paper
NM_006579.3
p.P10L
c.29C>T
1 paper
NM_006579.3
p.G6R
c.16G>C
4 papers
NM_006579.3
p.A5A
c.15G>T
3 papers
NM_006579.3
p.Y11H
c.31T>C
5 papers
NM_006579.3
p.Y11*
c.33C>A
4 papers
NM_006579.3
p.Y11*
c.33C>G
1 paper
NM_006579.3
p.N4N
c.12C>T
3 papers
NM_006579.3
p.W12*
c.35G>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."