Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.H15insFs

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.H15insFs
c.43dupC
Surrounding Variants
1 paper
NM_006579.3
p.Q14H
c.42G>C
1 paper
NM_006579.3
p.Q14_H15insFs
c.42_43insA
1 paper
NM_006579.3
p.H15D
c.43C>G
1 paper
NM_006579.3
p.P13H
c.38C>A
1 paper
NM_006579.3
p.P13A
c.37C>G
3 papers
NM_006579.3
p.L16_R17delins
c.47_50delinsAGTCTTA
6 papers
NM_006579.3
p.W12*
c.36G>A
5 papers
NM_006579.3
p.R17G
c.49A>G
3 papers
NM_006579.3
p.W12*
c.35G>A
1 paper
NM_006579.3
p.R17K
c.50G>A
5 papers
NM_006579.3
p.Y11*
c.33C>A
4 papers
NM_006579.3
p.Y11*
c.33C>G
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