Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.W135*

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
4 papers
NM_006579.3
p.W135*
c.405G>A
Surrounding Variants
4 papers
NM_006579.3
p.W135*
c.404G>A
1 paper
NM_006579.3
p.W135L
c.404G>T
1 paper
NM_006579.3
p.L134R
c.401T>G
1 paper
NM_006579.3
p.L134_W135insC
c.400_404ins3
6 papers
NM_006579.3
p.S133R
c.399C>A
6 papers
NM_006579.3
p.S133R
c.399C>G
1 paper
NM_006579.3
p.L134delFs
c.400delC
6 papers
NM_006579.3
p.S133R
c.397A>C
2 papers
NM_006579.3
p.S133C
c.397A>T
1 paper
NM_006579.3
p.A139_F140insFs
c.415_418dup4
1 paper
NM_006579.3
p.A139T
c.415G>A
2 papers
NM_006579.3
p.L132P
c.395T>C
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."