Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.S133R

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
6 papers
NM_006579.3
p.S133R
c.397A>C
Surrounding Variants
2 papers
NM_006579.3
p.S133C
c.397A>T
1 paper
NM_006579.3
p.L134delFs
c.400delC
6 papers
NM_006579.3
p.S133R
c.399C>A
6 papers
NM_006579.3
p.S133R
c.399C>G
2 papers
NM_006579.3
p.L132P
c.395T>C
1 paper
NM_006579.3
p.L132I
c.394C>A
1 paper
NM_006579.3
p.L134_W135insC
c.400_404ins3
1 paper
NM_006579.3
p.L132V
c.394C>G
1 paper
NM_006579.3
p.L134R
c.401T>G
1 paper
NM_006579.3
p.P131L
c.392C>T
1 paper
NM_006579.3
p.P131fs
c.391_392fs
4 papers
NM_006579.3
p.W135*
c.404G>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."