Varaico: Literature-Extracted Genetic Variants

Gene:EBP
Variant:p.G40R

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.G40R
c.118G>C
Surrounding Variants
1 paper
NM_006579.3
p.G40insFs
c.118_119insAC
1 paper
NM_006579.3
p.T39T
c.117A>T
1 paper
NM_006579.3
p.G40E
c.119G>A
1 paper
NM_006579.3
p.V41_V43del0
c.122_127del6
1 paper
NM_006579.3
p.V38L
c.112G>C
1 paper
NM_006579.3
p.V38F
c.112G>T
2 papers
NM_006579.3
p.S37_V38insFs
c.111_112insT
1 paper
NM_006579.3
p.S37_V38delFs
c.111_112delTG
1 paper
NM_006579.3
p.V43L
c.127G>C
1 paper
NM_006579.3
p.S37fs
c.109_110fs
1 paper
NM_006579.3
p.V44M
c.130G>A
1 paper
NM_006579.3
p.V44V
c.132G>A
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