Varaico: Literature-Extracted Genetic Variants

Gene:EPHX1
Variant:p.H139R

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
262 papers
NM_001136018.4
p.H139R
c.416A>G
Surrounding Variants
3 papers
NM_001136018.4
p.H139Y
c.415C>T
2 papers
NM_001136018.4
p.T140A
c.418A>G
1 paper
NM_001136018.4
p.Q134Q
c.402G>A
1 paper
NM_001136018.4
p.Q134H
c.402G>C
1 paper
NM_001136018.4
p.Q134R
c.401A>G
1 paper
NM_001136018.4
p.P133P
c.399C>T
1 paper
NM_001136018.4
p.P132T
c.394C>A
1 paper
NM_001136018.4
p.P132fs
c.394_395fs
3 papers
NM_001136018.4
p.H129Q
c.387C>A
3 papers
NM_001136018.4
p.H129Q
c.387C>G
1 paper
NM_001136018.4
p.H129H
c.387C>T
1 paper
NM_001136018.4
p.G149S
c.445G>A
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