Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.I79fs

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.I79fs
c.235_236fs
Surrounding Variants
1 paper
NM_006579.3
p.I79_F83delFs
c.236_249del14
14 papers
NM_006579.3
p.E80K
c.238G>A
1 paper
NM_006579.3
p.E80A
c.239A>C
1 paper
NM_006579.3
p.E80V
c.239A>T
1 paper
NM_006579.3
p.L77Q
c.230T>A
4 papers
NM_006579.3
p.H76Q
c.228C>A
1 paper
NM_006579.3
p.H76H
c.228C>T
1 paper
NM_006579.3
p.H76N
c.226C>A
4 papers
NM_006579.3
p.H76Y
c.226C>T
2 papers
NM_006579.3
p.W82*
c.245G>A
7 papers
NM_006579.3
p.W82C
c.246G>C
7 papers
NM_006579.3
p.W82C
c.246G>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."