Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.A139T

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.A139T
c.415G>A
Surrounding Variants
1 paper
NM_006579.3
p.A139_F140insFs
c.415_418dup4
1 paper
NM_006579.3
p.F140_L141delFs
c.419_422del4
1 paper
NM_006579.3
p.A139A
c.417C>A
1 paper
NM_006579.3
p.L141ins3
c.422_423ins9
1 paper
NM_006579.3
p.R142_Q143delFs
c.424_428del5
1 paper
NM_006579.3
p.R142C
c.424C>T
1 paper
NM_006579.3
p.R142_Q143delFs
c.425_428del4
4 papers
NM_006579.3
p.W135*
c.405G>A
1 paper
NM_006579.3
p.R142H
c.425G>A
1 paper
NM_006579.3
p.R142L
c.425G>T
4 papers
NM_006579.3
p.W135*
c.404G>A
1 paper
NM_006579.3
p.W135L
c.404G>T
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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."