Varaico: Literature-Extracted Genetic Variants

Gene:EPHX1
Variant:p.L27S

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.L27S
c.80T>C
Surrounding Variants
3 papers
NM_001136018.4
p.T26S
c.77C>G
3 papers
NM_001136018.4
p.T26S
c.76A>T
1 paper
NM_001136018.4
p.S20S
c.60C>T
1 paper
NM_001136018.4
p.G37R
c.109G>C
2 papers
NM_001136018.4
p.T38M
c.113C>T
1 paper
NM_001136018.4
p.A41T
c.121G>A
1 paper
NM_001136018.4
p.G12V
c.35G>T
10 papers
NM_001136018.4
p.R43T
c.128G>C
3 papers
NM_001136018.4
p.V10V
c.30G>A
3 papers
NM_001136018.4
p.E44Q
c.130G>C
1 paper
NM_001136018.4
p.V10delFs
c.29delT
1 paper
NM_001136018.4
p.T8T
c.24T>C
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