Varaico: Literature-Extracted Genetic Variants

Gene:EPHX1
Variant:p.E108D

EPHX1

557 papers

RefSeq Summary

Epoxide hydrolase is a critical biotransformation enzyme that converts epoxides from the degradation of aromatic compounds to trans-dihydrodiols which can be conjugated and excreted from the body. Epo...

Pfam Domains

Abhydrolase_1aa 142–405UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

epoxide hydrolase 1

HGNC Previous Name

epoxide hydrolase 1, microsomal (xenobiotic)

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001136018.4
p.E108D
c.324G>C
Surrounding Variants
1 paper
NM_001136018.4
p.E108D
c.324G>T
1 paper
NM_001136018.4
p.I109_L110delFs
c.327_328delTC
1 paper
NM_001136018.4
p.K105E
c.313A>G
319 papers
NM_001136018.4
p.Y113H
c.337T>C
3 papers
NM_001136018.4
p.Y113D
c.337T>G
6 papers
NM_001136018.4
p.W103*
c.308G>A
2 papers
NM_001136018.4
p.F101F
c.303T>C
2 papers
NM_001136018.4
p.K117R
c.350A>G
1 paper
NM_001136018.4
p.T118A
c.352A>G
2 papers
NM_001136018.4
p.N99I
c.296A>T
1 paper
NM_001136018.4
p.T118T
c.354T>C
3 papers
NM_001136018.4
p.R98Q
c.293G>A
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