Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.D19delFs

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.D19delFs
c.57delC
Surrounding Variants
1 paper
NM_006579.3
p.N20S
c.59A>G
16 papers
NM_006579.3
p.L18P
c.53T>C
1 paper
NM_006579.3
p.R17K
c.50G>A
5 papers
NM_006579.3
p.R17G
c.49A>G
3 papers
NM_006579.3
p.L16_R17delins
c.47_50delinsAGTCTTA
1 paper
NM_006579.3
p.V22V
c.66A>G
1 paper
NM_006579.3
p.P23L
c.68C>T
1 paper
NM_006579.3
p.H15D
c.43C>G
1 paper
NM_006579.3
p.P23P
c.69T>C
1 paper
NM_006579.3
p.N24fs
c.70_71fs
1 paper
NM_006579.3
p.Q14H
c.42G>C
1 paper
NM_006579.3
p.Q14_H15insFs
c.42_43insA
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