Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.G130delFs

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
3 papers
NM_006579.3
p.G130delFs
c.390delA
Surrounding Variants
1 paper
NM_006579.3
p.G130E
c.389G>A
6 papers
NM_006579.3
p.G130V
c.389G>T
1 paper
NM_006579.3
p.G130*
c.388G>T
1 paper
NM_006579.3
p.P131fs
c.391_392fs
2 papers
NM_006579.3
p.W129*
c.387G>A
1 paper
NM_006579.3
p.P131L
c.392C>T
2 papers
NM_006579.3
p.W129*
c.386G>A
1 paper
NM_006579.3
p.L132I
c.394C>A
1 paper
NM_006579.3
p.L132V
c.394C>G
2 papers
NM_006579.3
p.L132P
c.395T>C
1 paper
NM_006579.3
p.L128R
c.383T>G
1 paper
NM_006579.3
p.L128L
c.382C>T
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