Varaico: Literature-Extracted Genetic Variants

Gene:EPHX1
Variant:p.T275A

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
7 papers
NM_001136018.4
p.T275A
c.823A>G
Surrounding Variants
1 paper
NM_001136018.4
p.T275S
c.823A>T
1 paper
NM_001136018.4
p.T275S
c.824C>G
1 paper
NM_001136018.4
p.G269A
c.806G>C
1 paper
NM_001136018.4
p.P284L
c.851C>T
3 papers
NM_001136018.4
p.P284P
c.852C>T
1 paper
NM_001136018.4
p.V285L
c.853G>C
1 paper
NM_001136018.4
p.L264L
c.790C>T
1 paper
NM_001136018.4
p.L264del1
c.790_791delCTG
1 paper
NM_001136018.4
p.L263F
c.787C>T
1 paper
NM_001136018.4
p.L263_L264del1
c.789_791delCCT
2 papers
NM_001136018.4
p.F290S
c.869T>C
1 paper
NM_001136018.4
p.N256K
c.768C>A
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