Varaico: Literature-Extracted Genetic Variants

Gene:EPHX1
Variant:p.K416K

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
5 papers
NM_001136018.4
p.K416K
c.1248G>A
Surrounding Variants
1 paper
NM_001136018.4
p.K416R
c.1247A>G
1 paper
NM_001136018.4
p.F415L
c.1245C>G
2 papers
NM_001136018.4
p.V413V
c.1239G>A
1 paper
NM_001136018.4
p.L420F
c.1258C>T
1 paper
NM_001136018.4
p.Y423*
c.1269T>A
1 paper
NM_001136018.4
p.Y423*
c.1269T>G
1 paper
NM_001136018.4
p.E410_Y423insFs
c.1228_1267dup40
3 papers
NM_001136018.4
p.L406L
c.1216T>C
1 paper
NM_001136018.4
p.R428H
c.1283G>A
3 papers
NM_001136018.4
p.E404D
c.1212G>C
3 papers
NM_001136018.4
p.E404D
c.1212G>T
1 paper
NM_001136018.4
p.R428R
c.1284T>G
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