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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EPHX2

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

Position

RefSeq ID

Protein change

DNA change

Pfam

gnomAD

1–12 of 107 variants

79 papers

chr8:27516348 G>A

NM_001979.6

p.R287Q

c.860G>A

Abhydrolase_1

Exome: 10.9% (AC=158952, hom=9234)Genome: 10.5% (AC=15889, hom=917)18 overlapping SVs

36 papers

chr8:27500988 A>G

NM_001979.6

p.K55R

c.164A>G

Hydrolase

Exome: 10.2% (AC=149556, hom=8630)Genome: 12.9% (AC=19621, hom=1480)18 overlapping SVs

15 papers

chr8:27503724 C>T

NM_001979.6

p.R103C

c.307C>T

Hydrolase

Exome: 0.7% (AC=9875, hom=265)Genome: 3.3% (AC=4967, hom=216)18 overlapping SVs

11 papers

chr8:27505070 G>A

NM_001979.6

p.C154Y

c.461G>A

Hydrolase

Exome: 0.1% (AC=1633, hom=33)Genome: 0.2% (AC=341, hom=9)18 overlapping SVs

6 papers

chr8:27541502 A>G

NM_001979.6

p.E470G

c.1409A>G

Abhydrolase_1

Exome: 0.0% (AC=503, hom=4)Genome: 0.3% (AC=530, hom=4)17 overlapping SVs

5 papers

chr8:27536833 G>T

NM_001979.6

p.S407I

c.1220G>T

Abhydrolase_1

Exome: 0.0% (AC=158, hom=1)Genome: 0.0% (AC=4, hom=0)18 overlapping SVs

3 papers

chr8:27491234 A>C

NM_001979.6

p.D9A

c.26A>C

Hydrolase

exact variant not in gnomAD18 overlapping SVs

3 papers

chr8:27500978 C>T

NM_001979.6

p.R52W

c.154C>T

Hydrolase

Exome: 1.5% (AC=21514, hom=186)Genome: 1.1% (AC=1634, hom=14)18 overlapping SVs

3 papers

chr8:27516382 G>T

NM_001979.6

p.E298D

c.894G>T

Abhydrolase_1

exact variant not in gnomAD18 overlapping SVs

3 papers

chr8:27538681 T>C

NM_001979.6

p.V422A

c.1265T>C

Abhydrolase_1

Exome: 0.0% (AC=3, hom=0)Genome: 0.0% (AC=4, hom=0)18 overlapping SVs

2 papers

chr8:27504976 A>G

NM_001979.6

p.T123A

c.367A>G

Hydrolase

Exome: 0.0% (AC=1, hom=0)Genome: n/a18 overlapping SVs

2 papers

chr8:27516382 G>C

NM_001979.6

p.E298D

c.894G>C

Abhydrolase_1

exact variant not in gnomAD18 overlapping SVs

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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."