Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.Y111H

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.Y111H
c.331T>C
Surrounding Variants
1 paper
NM_006579.3
p.Y111D
c.331T>G
2 papers
NM_006579.3
p.Y111_I112insT
c.331_335ins3
2 papers
NM_006579.3
p.Y111delFs
c.333delC
3 papers
NM_006579.3
p.Y111*
c.333C>A
4 papers
NM_006579.3
p.Y111*
c.333C>G
11 papers
NM_006579.3
p.R110Q
c.329G>A
1 paper
NM_006579.3
p.I112fs
c.334_335fs
1 paper
NM_006579.3
p.I112F
c.334A>T
1 paper
NM_006579.3
p.R110insFs
c.328_329insT
10 papers
NM_006579.3
p.R110*
c.328C>T
1 paper
NM_006579.3
p.S109S
c.327C>T
1 paper
NM_006579.3
p.D108E
c.324C>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."