EPHX2
epoxide hydrolase 2
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. Mutations in this gene have been associated with familial hypercholesterolemia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2012]
Known Variants46 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs72473930 | 8:27,348,787 | G/A | — | uncertain significance |
| rs2234912 | 8:27,348,788 | C/A | — | likely benign |
| rs1387139076 | 8:27,358,483 | G/T | — | uncertain significance |
| rs72475803 | 8:27,358,496 | G/A | — | likely benign |
| rs1813745644 | 8:27,358,501 | A/T | — | uncertain significance |
| rs41507953 | 8:27,358,505 | A/G | missense variant | benign |
| rs146918355 | 8:27,361,200 | A/G | — | benign |
| rs747196050 | 8:27,361,221 | T/A | — | uncertain significance |
| rs1197455895 | 8:27,361,245 | C/G | — | uncertain significance |
| rs2490692365 | 8:27,361,269 | T/G | — | uncertain significance |
| rs376426011 | 8:27,362,521 | A/T | — | uncertain significance |
| rs1813952890 | 8:27,362,650 | C/A | — | uncertain significance |
| rs201535183 | 8:27,364,407 | A/G | — | likely benign |
| rs1814030731 | 8:27,364,441 | G/C | — | uncertain significance |
| rs72475821 | 8:27,369,366 | C/T | — | likely benign |
| rs537787758 | 8:27,369,396 | G/A | — | uncertain significance |
| rs765542530 | 8:27,373,244 | C/T | — | uncertain significance |
| rs137956640 | 8:27,373,245 | G/A | — | uncertain significance |
| rs143412145 | 8:27,373,274 | C/T | — | uncertain significance |
| rs35169320 | 8:27,373,309 | T/C | — | likely benign |
| rs146349595 | 8:27,373,864 | C/T | — | uncertain significance |
| rs751141 | 8:27,373,865 | G/A | missense variant | risk factor |
| rs757054443 | 8:27,373,914 | C/T | — | likely benign |
| rs202141435 | 8:27,373,920 | G/A | — | uncertain significance |
| rs1220811349 | 8:27,375,570 | G/T | — | uncertain significance |
| rs72475868 | 8:27,378,395 | C/T | — | benign |
| rs76549048 | 8:27,382,881 | C/T | — | uncertain significance |
| rs201276018 | 8:27,382,901 | C/T | — | benign |
| rs144164948 | 8:27,382,945 | C/G | — | uncertain significance |
| rs144419553 | 8:27,382,974 | T/C | — | uncertain significance |
| rs78875955 | 8:27,389,456 | C/T | intron variant | — |
| rs772415390 | 8:27,394,337 | C/T | — | uncertain significance |
| rs2490839883 | 8:27,394,347 | A/G | — | uncertain significance |
| rs13439459 | 8:27,394,366 | C/T | — | benign |
| rs976652441 | 8:27,396,184 | A/G | — | likely benign |
| rs4149253 | 8:27,396,208 | G/A | — | benign |
| rs780433650 | 8:27,398,138 | G/C | — | uncertain significance |
| rs527892120 | 8:27,398,143 | A/G | — | uncertain significance |
| rs770615757 | 8:27,399,055 | G/A | — | uncertain significance |
| rs200893629 | 8:27,401,294 | C/T | — | uncertain significance |
| rs759999449 | 8:27,401,333 | A/G | — | uncertain significance |
| rs139248331 | 8:27,401,719 | G/T | — | uncertain significance |
| rs775734470 | 8:27,401,755 | T/C | — | uncertain significance |
| rs1437228442 | 8:27,401,987 | T/C | — | uncertain significance |
| rs189341740 | 8:27,402,013 | A/G | — | likely benign |
| rs779539300 | 8:27,402,035 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.