EPX
eosinophil peroxidase
Summary
This gene is a member of the peroxidase gene family and is expressed in eosinophils. The encoded preproprotein is proteolytically processed into covalently attached heavy and light chains to form the mature enzyme, which functions as an oxidant. The enzyme is released at sites of parasitic infection or allergen stimulation to mediate lysis of protozoa or parasitic worms. The gene is found in a gene cluster with other peroxidase genes on chromosome 17. Mutations in this gene result in eosinophil peroxidase deficiency. [provided by RefSeq, Feb 2016]
Known Variants75 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1363415471 | 17:56,270,221 | C/T | — | likely benign |
| rs34553736 | 17:56,270,425 | G/A | — | benign |
| rs139322566 | 17:56,270,438 | G/A | — | benign |
| rs772930951 | 17:56,270,454 | G/C | — | uncertain significance |
| rs200112800 | 17:56,270,497 | A/G | — | likely benign |
| rs772997855 | 17:56,270,749 | G/A | — | uncertain significance |
| rs750729437 | 17:56,270,874 | C/A | — | uncertain significance |
| rs373964132 | 17:56,270,889 | G/A | — | likely benign |
| rs759899408 | 17:56,271,098 | C/T | — | uncertain significance |
| rs563560397 | 17:56,271,137 | C/G | — | uncertain significance |
| rs141038476 | 17:56,271,168 | C/G | — | uncertain significance |
| rs370404238 | 17:56,271,179 | C/T | — | uncertain significance |
| rs36066186 | 17:56,271,200 | C/T | — | benign |
| rs745353396 | 17:56,272,329 | G/A | — | uncertain significance |
| rs1252426794 | 17:56,272,343 | C/A | — | uncertain significance |
| rs148671148 | 17:56,272,362 | A/G | — | likely benign |
| rs530146339 | 17:56,272,383 | G/A | — | uncertain significance |
| rs774499008 | 17:56,272,389 | G/A | — | uncertain significance |
| rs1483068988 | 17:56,272,398 | T/C | — | uncertain significance |
| rs62636621 | 17:56,272,455 | C/T | — | uncertain significance |
| rs775657051 | 17:56,272,472 | A/G | — | uncertain significance |
| rs762203083 | 17:56,272,481 | G/A | — | uncertain significance |
| rs35617692 | 17:56,272,501 | C/A | — | benign |
| rs34599426 | 17:56,272,532 | G/A | — | likely benign |
| rs121434566 | 17:56,274,355 | G/A | missense variant | affects |
| rs33971258 | 17:56,274,373 | C/T | — | benign |
| rs199786517 | 17:56,274,396 | A/C | — | uncertain significance |
| rs756362103 | 17:56,274,408 | G/A | — | likely benign |
| rs201419733 | 17:56,274,409 | C/T | — | uncertain significance |
| rs148414734 | 17:56,274,413 | C/T | — | benign |
| rs149610649 | 17:56,274,420 | T/C | — | likely benign |
| rs774394917 | 17:56,274,429 | G/A | — | uncertain significance |
| rs775290101 | 17:56,274,530 | C/A | — | uncertain significance |
| rs35419219 | 17:56,274,563 | C/G | — | uncertain significance |
| rs745375677 | 17:56,274,564 | G/A | — | uncertain significance |
| rs573827983 | 17:56,274,588 | C/T | — | uncertain significance |
| rs764865930 | 17:56,274,598 | G/A | — | uncertain significance |
| rs761071437 | 17:56,276,461 | A/G | — | uncertain significance |
| rs201075574 | 17:56,276,470 | G/A | — | uncertain significance |
| rs143664695 | 17:56,276,481 | G/A | — | uncertain significance |
| rs757551690 | 17:56,276,491 | G/A | — | uncertain significance |
| rs184419194 | 17:56,276,503 | G/A | — | uncertain significance |
| rs139973119 | 17:56,276,535 | C/T | — | uncertain significance |
| rs139284625 | 17:56,276,546 | G/A | — | uncertain significance |
| rs768176390 | 17:56,276,952 | G/A | — | uncertain significance |
| rs1968311012 | 17:56,276,993 | G/C | — | uncertain significance |
| rs368844687 | 17:56,277,024 | C/T | — | uncertain significance |
| rs201835272 | 17:56,277,030 | G/A | — | uncertain significance |
| rs768211646 | 17:56,277,065 | C/T | — | uncertain significance |
| rs1218442295 | 17:56,277,095 | C/T | — | uncertain significance |
| rs764554374 | 17:56,277,102 | C/T | — | uncertain significance |
| rs200146314 | 17:56,277,110 | C/A | — | uncertain significance |
| rs1003830294 | 17:56,277,141 | G/A | — | uncertain significance |
| rs375859733 | 17:56,277,600 | A/G | — | uncertain significance |
| rs549396092 | 17:56,277,639 | C/T | — | uncertain significance |
| rs369774099 | 17:56,277,640 | G/A | — | uncertain significance |
| rs1248060636 | 17:56,277,667 | T/C | — | uncertain significance |
| rs150579989 | 17:56,277,684 | C/T | — | likely benign |
| rs778189950 | 17:56,277,735 | A/C | — | uncertain significance |
| rs369622374 | 17:56,277,738 | C/T | — | uncertain significance |
| rs2302311 | 17:56,280,447 | A/T | — | benign |
| rs765619136 | 17:56,280,483 | C/G | — | uncertain significance |
| rs372133441 | 17:56,280,568 | T/C | — | uncertain significance |
| rs1386568929 | 17:56,280,591 | G/A | — | uncertain significance |
| rs144768455 | 17:56,280,605 | G/A | — | benign |
| rs1968365751 | 17:56,280,606 | C/T | — | uncertain significance |
| rs141104307 | 17:56,280,667 | G/A | — | uncertain significance |
| rs141055426 | 17:56,280,675 | G/A | missense variant | affects |
| rs201265792 | 17:56,281,589 | G/C | — | uncertain significance |
| rs537204155 | 17:56,281,600 | G/A | — | uncertain significance |
| rs767519152 | 17:56,281,602 | G/A | — | uncertain significance |
| rs150085970 | 17:56,281,624 | G/A | — | uncertain significance |
| rs191836339 | 17:56,281,708 | C/T | — | uncertain significance |
| rs775623095 | 17:56,281,710 | A/T | — | uncertain significance |
| rs765087157 | 17:56,281,731 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.