Varaico: Literature-Extracted Genetic Variants

Gene:EPHX1
Variant:p.F290S

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.F290S
c.869T>C
Surrounding Variants
3 papers
NM_001136018.4
p.M294I
c.882G>A
3 papers
NM_001136018.4
p.M294I
c.882G>C
3 papers
NM_001136018.4
p.M294I
c.882G>T
1 paper
NM_001136018.4
p.R295K
c.884G>A
1 paper
NM_001136018.4
p.V285L
c.853G>C
3 papers
NM_001136018.4
p.P284P
c.852C>T
1 paper
NM_001136018.4
p.P284L
c.851C>T
1 paper
NM_001136018.4
p.G298G
c.894C>T
1 paper
NM_001136018.4
p.Y299F
c.896A>T
1 paper
NM_001136018.4
p.I302M
c.906C>G
1 paper
NM_001136018.4
p.T275S
c.824C>G
1 paper
NM_001136018.4
p.T305I
c.914C>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."