XPNPEP2
X-prolyl aminopeptidase 2
Summary
Aminopeptidase P is a hydrolase specific for N-terminal imido bonds, which are common to several collagen degradation products, neuropeptides, vasoactive peptides, and cytokines. Structurally, the enzyme is a member of the 'pita bread fold' family and occurs in mammalian tissues in both soluble and GPI-anchored membrane-bound forms. A membrane-bound and soluble form of this enzyme have been identified as products of two separate genes. [provided by RefSeq, Jul 2008]
Known Variants52 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs3788853 | X:128,870,791 | C/A | regulatory region variant | risk factor |
| rs2050011 | X:128,871,578 | G/A | — | — |
| rs777882575 | X:128,873,196 | C/T | — | likely benign |
| rs5975145 | X:128,875,801 | C/T | — | benign |
| rs5975146 | X:128,875,978 | G/A | — | benign |
| rs147873278 | X:128,876,155 | C/G | — | uncertain significance |
| rs1272063889 | X:128,879,203 | G/C | — | uncertain significance |
| rs1195935972 | X:128,879,218 | A/G | — | uncertain significance |
| rs1336537003 | X:128,880,262 | T/C | — | uncertain significance |
| rs1456075649 | X:128,880,287 | T/A | — | uncertain significance |
| rs386352381 | X:128,880,312 | G/A | — | uncertain significance |
| rs1481447777 | X:128,880,563 | T/C | — | likely benign |
| rs760111651 | X:128,880,585 | A/G | — | uncertain significance |
| rs3747343 | X:128,880,614 | T/C | — | benign |
| rs987480651 | X:128,880,640 | C/T | — | uncertain significance |
| rs2522088910 | X:128,881,607 | C/A | — | uncertain significance |
| rs144619324 | X:128,881,635 | G/T | — | likely benign |
| rs191887278 | X:128,881,685 | C/T | — | uncertain significance |
| rs138365897 | X:128,884,450 | C/T | missense variant | — |
| rs765067524 | X:128,884,465 | T/C | — | uncertain significance |
| rs761857904 | X:128,884,515 | G/A | — | uncertain significance |
| rs1316035895 | X:128,884,518 | C/A | — | uncertain significance |
| rs2522096348 | X:128,885,729 | A/C | — | uncertain significance |
| rs377568487 | X:128,886,146 | G/A | — | uncertain significance |
| rs2522097438 | X:128,886,162 | C/T | — | likely benign |
| rs151254296 | X:128,886,229 | C/T | — | uncertain significance |
| rs200622189 | X:128,886,299 | G/A | — | uncertain significance |
| rs192592840 | X:128,886,332 | C/T | — | likely benign |
| rs185260305 | X:128,887,144 | G/A | — | uncertain significance |
| rs1926453223 | X:128,887,198 | G/A | — | uncertain significance |
| rs938361223 | X:128,887,206 | C/G | — | likely benign |
| rs145126121 | X:128,888,528 | G/A | — | likely benign |
| rs146840263 | X:128,888,532 | G/A | — | uncertain significance |
| rs761953301 | X:128,888,554 | G/A | — | uncertain significance |
| rs1051476258 | X:128,889,272 | A/T | — | uncertain significance |
| rs1351719626 | X:128,889,275 | A/T | — | uncertain significance |
| rs867312968 | X:128,889,284 | C/T | — | likely benign |
| rs1220171785 | X:128,889,328 | G/T | — | uncertain significance |
| rs757139295 | X:128,890,513 | A/C | — | uncertain significance |
| rs375530554 | X:128,893,200 | C/T | — | uncertain significance |
| rs770601922 | X:128,894,501 | G/A | — | uncertain significance |
| rs758120793 | X:128,894,545 | G/A | — | uncertain significance |
| rs2522115614 | X:128,895,160 | A/C | — | uncertain significance |
| rs767821189 | X:128,895,189 | G/A | — | uncertain significance |
| rs1926651380 | X:128,895,222 | G/A | — | uncertain significance |
| rs2522117357 | X:128,896,002 | A/C | — | uncertain significance |
| rs2522126313 | X:128,901,600 | T/G | — | uncertain significance |
| rs200683833 | X:128,901,653 | G/A | — | likely benign |
| rs142912864 | X:128,902,290 | C/T | — | likely benign |
| rs144580730 | X:128,902,301 | G/A | — | uncertain significance |
| rs767083060 | X:128,902,439 | C/T | — | uncertain significance |
| rs17314665 | X:128,902,624 | C/A | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.