Varaico: Literature-Extracted Genetic Variants

Gene:EPHX1
Variant:p.E44Q

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
3 papers
NM_001136018.4
p.E44Q
c.130G>C
Surrounding Variants
10 papers
NM_001136018.4
p.R43T
c.128G>C
16 papers
NM_001136018.4
p.S47G
c.139A>G
1 paper
NM_001136018.4
p.A41T
c.121G>A
8 papers
NM_001136018.4
p.R49C
c.145C>T
2 papers
NM_001136018.4
p.T38M
c.113C>T
1 paper
NM_001136018.4
p.P50L
c.149C>T
1 paper
NM_001136018.4
p.G37R
c.109G>C
1 paper
NM_001136018.4
p.F51C
c.152T>G
1 paper
NM_001136018.4
p.T55K
c.164C>A
2 papers
NM_001136018.4
p.E58D
c.174G>C
1 paper
NM_001136018.4
p.I60T
c.179T>C
1 paper
NM_001136018.4
p.L27S
c.80T>C
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