Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.M1I

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
5 papers
NM_006579.3
p.M1I
c.3G>A
Surrounding Variants
2 papers
NM_006579.3
p.M1I
c.3G>C
3 papers
NM_006579.3
p.M1I
c.3G>T
2 papers
NM_006579.3
p.M1V
c.1A>G
1 paper
NM_006579.3
p.M1_T2delFs
c.1_4del4
1 paper
NM_006579.3
p.T2T
c.6T>A
2 papers
NM_006579.3
p.N4_P7delFs
c.10_20del11
1 paper
NM_006579.3
p.M1_N4del4
c.1_11del12
2 papers
NM_006579.3
p.N4fs
c.10_11fs
1 paper
NM_006579.3
p.N4N
c.12C>T
4 papers
NM_006579.3
p.A5A
c.15G>T
1 paper
NM_006579.3
p.G6R
c.16G>C
1 paper
NM_006579.3
p.G6_P7insFs
c.18_19insTT
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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."