POR
cytochrome p450 oxidoreductase
Pharmacogene
Summary
This gene encodes an endoplasmic reticulum membrane oxidoreductase that is essential for multiple metabolic processes, including reactions catalyzed by cytochrome P450 proteins for metabolism of steroid hormones, drugs and xenobiotics. The encoded protein has a flavin adenine dinucleotide (FAD)-binding domain and a flavodoxin-like domain which bind two cofactors, FAD and FMN, that allow it to donate electrons directly from NADPH to all microsomal P450 enzymes. Mutations in this gene cause a complex set of disorders, including apparent combined P450C17 and P450C21 deficiency, amenorrhea and disordered steroidogenesis, congenital adrenal hyperplasia and Antley-Bixler syndrome, that resemble those caused by defects in steroid metabolizing enzymes such as aromatase, 21-hydroxylase, and 17 alpha-hydroxylase. [provided by RefSeq, Aug 2020]
Known Variants682 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs550051548 | 7:75,543,292 | G/C | — | — |
| rs886062437 | 7:75,544,422 | A/C | — | uncertain significance |
| rs3823884 | 7:75,544,455 | A/C | regulatory region variant | benign |
| rs535395573 | 7:75,544,456 | G/C | — | uncertain significance |
| rs72553977 | 7:75,544,469 | G/T | — | uncertain significance |
| rs886062438 | 7:75,544,497 | G/C | — | uncertain significance |
| rs1040331805 | 7:75,544,505 | C/G | — | uncertain significance |
| rs1401114101 | 7:75,544,506 | T/C | — | uncertain significance |
| rs1806480526 | 7:75,544,508 | T/C | — | likely benign |
| rs3898649 | 7:75,546,892 | G/A | downstream gene variant | — |
| rs184806682 | 7:75,550,437 | G/T | regulatory region variant | — |
| rs184981515 | 7:75,558,126 | G/A | regulatory region variant | — |
| rs531703963 | 7:75,559,936 | G/A | — | — |
| rs239953 | 7:75,579,490 | T/A | — | — |
| rs192056712 | 7:75,580,353 | G/A | intron variant | — |
| rs556345367 | 7:75,580,450 | C/T | — | — |
| rs782818618 | 7:75,583,324 | G/C | — | uncertain significance |
| rs10262966 | 7:75,583,325 | A/T | synonymous variant | benign |
| rs1007356570 | 7:75,583,334 | C/T | — | likely benign |
| rs781833194 | 7:75,583,352 | C/T | — | likely benign |
| rs369118442 | 7:75,583,353 | G/A | — | uncertain significance |
| rs781862803 | 7:75,583,355 | G/A | — | likely benign |
| rs782678930 | 7:75,583,358 | C/T | — | likely benign |
| rs373053855 | 7:75,583,359 | G/T | — | pathogenic |
| rs782214390 | 7:75,583,363 | C/T | — | uncertain significance |
| rs782378313 | 7:75,583,364 | G/A | — | likely benign |
| rs782030124 | 7:75,583,370 | C/T | — | likely benign |
| rs2535262986 | 7:75,583,379 | A/G | — | likely benign |
| rs782318066 | 7:75,583,383 | C/T | — | uncertain significance |
| rs781915397 | 7:75,583,396 | C/T | — | uncertain significance |
| rs41295381 | 7:75,583,397 | G/A | — | conflicting classifications of pathogenicity |
| rs781863684 | 7:75,583,406 | T/C | — | likely benign |
| rs1554553365 | 7:75,583,415 | G/A | — | likely benign |
| rs371758475 | 7:75,583,421 | C/T | — | likely benign |
| rs782469484 | 7:75,583,422 | G/A | — | uncertain significance |
| rs782572914 | 7:75,583,430 | C/T | — | likely benign |
| rs1787574873 | 7:75,583,434 | A/G | — | uncertain significance |
| rs2535263495 | 7:75,583,446 | C/T | — | uncertain significance |
| rs782289780 | 7:75,583,456 | A/G | — | uncertain significance |
| rs1347157369 | 7:75,583,458 | A/G | — | uncertain significance |
| rs376145249 | 7:75,583,468 | A/T | — | uncertain significance |
| rs370701548 | 7:75,583,469 | A/C | — | uncertain significance |
| rs1787576819 | 7:75,583,472 | C/T | — | likely benign |
| rs782368623 | 7:75,583,475 | C/T | — | likely benign |
| rs782151568 | 7:75,583,476 | G/A | — | uncertain significance |
| rs782711779 | 7:75,583,479 | T/C | — | uncertain significance |
| rs927062544 | 7:75,583,481 | C/G | — | uncertain significance |
| rs781793249 | 7:75,583,482 | A/G | — | uncertain significance |
| rs936203749 | 7:75,583,500 | T/C | — | likely pathogenic |
| rs782106991 | 7:75,583,507 | C/T | — | likely benign |
| rs892077803 | 7:75,583,508 | G/A | — | likely benign |
| rs782732748 | 7:75,583,512 | C/G | — | likely benign |
| rs2535264026 | 7:75,583,514 | C/G | — | likely benign |
| rs13224908 | 7:75,583,691 | C/G | — | benign |
| rs115717966 | 7:75,583,771 | G/A | — | benign |
| rs4728533 | 7:75,586,536 | T/G | — | — |
| rs2868177 | 7:75,589,903 | A/G | intron variant | — |
| rs146063272 | 7:75,591,387 | C/T | intron variant | — |
| rs782278721 | 7:75,601,713 | C/T | — | likely benign |
| rs374111607 | 7:75,601,721 | T/C | — | conflicting classifications of pathogenicity |
| rs749668637 | 7:75,601,723 | T/C | — | likely benign |
| rs2535335928 | 7:75,601,726 | T/C | — | likely benign |
| rs868909994 | 7:75,601,733 | C/T | — | uncertain significance |
| rs1788483332 | 7:75,601,737 | C/G | — | likely benign |
| rs782107314 | 7:75,601,756 | T/C | — | uncertain significance |
| rs1554556319 | 7:75,601,758 | T/G | — | uncertain significance |
| rs1788485288 | 7:75,601,777 | A/G | — | uncertain significance |
| rs2535336348 | 7:75,601,793 | A/G | — | likely benign |
| rs368055989 | 7:75,601,799 | T/C | — | likely benign |
| rs17148944 | 7:75,601,867 | A/G | — | benign |
| rs13240755 | 7:75,606,109 | G/A | intron variant | — |
| rs4732513 | 7:75,607,608 | C/T | intron variant | — |
| rs10225188 | 7:75,608,674 | G/T | — | benign |
| rs184964276 | 7:75,608,750 | C/G | — | likely benign |
| rs782630847 | 7:75,608,752 | G/A | — | likely benign |
| rs782288780 | 7:75,608,753 | T/G | — | likely benign |
| rs1788879534 | 7:75,608,754 | G/A | — | likely benign |
| rs782403694 | 7:75,608,756 | C/T | — | likely benign |
| rs782582742 | 7:75,608,758 | G/A | — | likely benign |
| rs542774696 | 7:75,608,759 | C/A | — | likely benign |
| rs782358364 | 7:75,608,760 | C/A | — | likely benign |
| rs781961953 | 7:75,608,761 | T/C | — | likely benign |
| rs782035827 | 7:75,608,764 | C/T | — | conflicting classifications of pathogenicity |
| rs782379018 | 7:75,608,766 | T/C | — | uncertain significance |
| rs74316682 | 7:75,608,767 | A/G | — | likely pathogenic |
| rs2535365951 | 7:75,608,768 | G/A | — | likely pathogenic |
| rs782037392 | 7:75,608,776 | A/T | — | uncertain significance |
| rs1585126959 | 7:75,608,777 | C/T | — | likely benign |
| rs1554557296 | 7:75,608,780 | C/A | — | likely benign |
| rs782768141 | 7:75,608,783 | C/T | — | likely benign |
| rs544187501 | 7:75,608,786 | G/T | — | likely benign |
| rs1047228872 | 7:75,608,791 | A/G | — | uncertain significance |
| rs372424311 | 7:75,608,792 | C/T | — | likely benign |
| rs2535366220 | 7:75,608,799 | C/T | — | pathogenic |
| rs562750402 | 7:75,608,803 | C/T | — | uncertain significance |
| rs782149136 | 7:75,608,804 | G/A | — | likely benign |
| rs905483655 | 7:75,608,810 | T/C | — | likely benign |
| rs2535366346 | 7:75,608,812 | C/T | — | uncertain significance |
| rs1554557307 | 7:75,608,825 | C/T | — | likely benign |
| rs782001274 | 7:75,608,831 | C/A | — | likely benign |
Showing 100 of 682 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.