Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.R63R

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.R63R
c.189A>G
Surrounding Variants
1 paper
NM_006579.3
p.R63P
c.188G>C
10 papers
NM_006579.3
p.R63*
c.187C>T
1 paper
NM_006579.3
p.L64P
c.191T>C
1 paper
NM_006579.3
p.R63del1
c.187_188delCGA
9 papers
NM_006579.3
p.R62W
c.184C>T
5 papers
NM_006579.3
p.W61*
c.183G>A
6 papers
NM_006579.3
p.W61*
c.182G>A
8 papers
NM_006579.3
p.L66P
c.197T>C
2 papers
NM_006579.3
p.R62_R63del1
c.186_188delGCG
2 papers
NM_006579.3
p.L66L
c.198G>A
1 paper
NM_006579.3
p.T60T
c.180T>C
2 papers
NM_006579.3
p.C67R
c.199T>C
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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."