Varaico: Literature-Extracted Genetic Variants

Gene:EPHX1
Variant:p.N357N

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
6 papers
NM_001136018.4
p.N357N
c.1071C>T
Surrounding Variants
3 papers
NM_001136018.4
p.M359L
c.1075A>C
1 paper
NM_001136018.4
p.T356I
c.1067C>T
1 paper
NM_001136018.4
p.L360L
c.1080C>G
3 papers
NM_001136018.4
p.D352D
c.1056C>T
1 paper
NM_001136018.4
p.G365V
c.1094G>T
1 paper
NM_001136018.4
p.T366T
c.1098C>T
1 paper
NM_001136018.4
p.R347S
c.1041G>C
1 paper
NM_001136018.4
p.Y374S
c.1121A>C
2 papers
NM_001136018.4
p.Y374F
c.1121A>T
1 paper
NM_001136018.4
p.K375N
c.1125G>C
1 paper
NM_001136018.4
p.E376Q
c.1126G>C
1 paper
NM_001136018.4
p.E376G
c.1127A>G
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