Varaico: Literature-Extracted Genetic Variants

Gene:EPHX1
Variant:p.T233T

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
2 papers
NM_001136018.4
p.T233T
c.699T>C
Surrounding Variants
1 paper
NM_001136018.4
p.N234D
c.700A>G
1 paper
NM_001136018.4
p.T233ins1
c.698_699insTTT
1 paper
NM_001136018.4
p.M235delFs
c.705delG
4 papers
NM_001136018.4
p.I231V
c.691A>G
1 paper
NM_001136018.4
p.G224R
c.670G>A
1 paper
NM_001136018.4
p.G224R
c.670G>C
1 paper
NM_001136018.4
p.E219G
c.656A>G
1 paper
NM_001136018.4
p.Q218*
c.652C>T
1 paper
NM_001136018.4
p.F217L
c.651C>A
1 paper
NM_001136018.4
p.F217L
c.651C>G
1 paper
NM_001136018.4
p.F217L
c.649T>C
1 paper
NM_001136018.4
p.A205P
c.613G>C
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