Varaico: Literature-Extracted Genetic Variants

Gene:EPHX1

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
1–12 of 194 variants
319 papers
NM_001136018.4
p.Y113H
c.337T>C
262 papers
NM_001136018.4
p.H139R
c.416A>G
16 papers
NM_001136018.4
p.S47G
c.139A>G
10 papers
NM_001136018.4
p.R43T
c.128G>C
8 papers
NM_001136018.4
p.R49C
c.145C>T
7 papers
NM_001136018.4
p.K119K
c.357G>A
7 papers
NM_001136018.4
p.T275A
c.823A>G
6 papers
NM_001136018.4
p.I94I
c.282C>T
6 papers
NM_001136018.4
p.W103*
c.308G>A
6 papers
NM_001136018.4
p.N357N
c.1071C>T
5 papers
NM_001136018.4
p.K416K
c.1248G>A
4 papers
NM_001136018.4
p.A203A
c.609C>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."