Varaico: Literature-Extracted Genetic Variants

Gene:EPHX1
Variant:p.G198Splc

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.G198Splc
c.592+63C>T
Surrounding Variants
1 paper
NM_001136018.4
p.G198Splc
c.592+34G>A
1 paper
NM_001136018.4
p.K197*
c.589A>T
1 paper
NM_001136018.4
p.Y188C
c.563A>G
1 paper
NM_001136018.4
p.I181V
c.541A>G
1 paper
NM_001136018.4
p.V180V
c.540C>T
1 paper
NM_001136018.4
p.H170N
c.508C>A
1 paper
NM_001136018.4
p.K168K
c.504G>A
1 paper
NM_001136018.4
p.P167R
c.500C>G
1 paper
NM_001136018.4
p.E156K
c.466G>A
1 paper
NM_001136018.4
p.Y155H
c.463T>C
1 paper
NM_001136018.4
p.G152S
c.454G>A
2 papers
NM_001136018.4
p.W150*
c.449G>A
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