Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.S50T

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.S50T
c.148T>A
Surrounding Variants
2 papers
NM_006579.3
p.S50*
c.149C>A
2 papers
NM_006579.3
p.S50*
c.149C>G
1 paper
NM_006579.3
p.L49F
c.147G>C
1 paper
NM_006579.3
p.G51D
c.152G>A
1 paper
NM_006579.3
p.L48L
c.144G>C
4 papers
NM_006579.3
p.W47*
c.141G>A
1 paper
NM_006579.3
p.R52H
c.155G>A
7 papers
NM_006579.3
p.W47C
c.141G>C
8 papers
NM_006579.3
p.W47C
c.141G>T
1 paper
NM_006579.3
p.A53_L58delFs
c.157_172del16
4 papers
NM_006579.3
p.W47*
c.140G>A
2 papers
NM_006579.3
p.A53T
c.157G>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."