Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.T125K

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.T125K
c.374C>A
Surrounding Variants
1 paper
NM_006579.3
p.T125R
c.374C>G
1 paper
NM_006579.3
p.A126T
c.376G>A
3 papers
NM_006579.3
p.L128delFs
c.382delC
1 paper
NM_006579.3
p.L128L
c.382C>T
2 papers
NM_006579.3
p.E122A
c.365A>C
1 paper
NM_006579.3
p.L128R
c.383T>G
1 paper
NM_006579.3
p.E122K
c.364G>A
2 papers
NM_006579.3
p.W129*
c.386G>A
1 paper
NM_006579.3
p.M121R
c.362T>G
3 papers
NM_006579.3
p.M121V
c.361A>G
2 papers
NM_006579.3
p.W129*
c.387G>A
1 paper
NM_006579.3
p.G130*
c.388G>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."