Varaico: Literature-Extracted Genetic Variants

Gene:EPHX2
Variant:p.K160N

EPHX2

198 papers

RefSeq Summary

This gene encodes a member of the epoxide hydrolase family. The protein, found in both the cytosol and peroxisomes, binds to specific epoxides and converts them to the corresponding dihydrodiols. Muta...

Pfam Domains

Hydrolaseaa 3–197UCSChaloacid dehalogenase-like hydrolase
Abhydrolase_1aa 259–531UCSCalpha/beta hydrolase fold

Gene Aliases

HGNC Name

epoxide hydrolase 2

HGNC Alias Symbol

ABHD20

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001979.6
p.K160N
c.480A>T
Surrounding Variants
1 paper
NM_001979.6
p.K160N
c.480A>C
1 paper
NM_001979.6
p.K160R
c.479A>G
1 paper
NM_001979.6
p.V159G
c.476T>G
1 paper
NM_001979.6
p.Q155E
c.463C>G
11 papers
NM_001979.6
p.C154Y
c.461G>A
1 paper
NM_001979.6
p.L169V
c.505C>G
1 paper
NM_001979.6
p.I151T
c.452T>C
1 paper
NM_001979.6
p.E132K
c.394G>A
1 paper
NM_001979.6
p.R130H
c.389G>A
1 paper
NM_001979.6
p.N124S
c.371A>G
1 paper
NM_001979.6
p.N124D
c.370A>G
1 paper
NM_001979.6
p.T123N
c.368C>A
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