PREP
prolyl endopeptidase
Summary
The protein encoded by this gene is a cytosolic prolyl endopeptidase that cleaves peptide bonds on the C-terminal side of prolyl residues within peptides that are up to approximately 30 amino acids long. Prolyl endopeptidases have been reported to be involved in the maturation and degradation of peptide hormones and neuropeptides. [provided by RefSeq, Jul 2008]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs536384380 | 6:105,721,169 | C/T | coding sequence variant | — |
| rs2634854 | 6:105,721,866 | G/A | regulatory region variant | — |
| rs554298353 | 6:105,726,033 | C/T | — | uncertain significance |
| rs368281704 | 6:105,726,048 | G/A | — | uncertain significance |
| rs116581811 | 6:105,726,112 | G/A | — | benign |
| rs377611251 | 6:105,726,164 | C/T | — | uncertain significance |
| rs758277302 | 6:105,726,168 | G/A | — | uncertain significance |
| rs201312087 | 6:105,730,394 | A/G | — | uncertain significance |
| rs767778986 | 6:105,733,400 | T/C | — | uncertain significance |
| rs776787804 | 6:105,736,693 | G/C | — | uncertain significance |
| rs145698846 | 6:105,736,733 | T/C | — | uncertain significance |
| rs11968488 | 6:105,776,195 | C/T | intron variant | — |
| rs7761208 | 6:105,776,289 | T/C | intron variant | — |
| rs12210271 | 6:105,776,312 | C/T | intron variant | — |
| rs548769535 | 6:105,776,779 | C/T | — | uncertain significance |
| rs149545819 | 6:105,776,796 | G/C | — | uncertain significance |
| rs765006643 | 6:105,776,798 | C/G | — | uncertain significance |
| rs369849841 | 6:105,776,809 | C/T | — | uncertain significance |
| rs12192054 | 6:105,776,866 | A/T | — | uncertain significance |
| rs1771248715 | 6:105,776,883 | C/T | — | uncertain significance |
| rs1230264646 | 6:105,781,206 | T/C | — | uncertain significance |
| rs144257084 | 6:105,781,267 | C/T | — | uncertain significance |
| rs374389008 | 6:105,781,275 | T/C | — | uncertain significance |
| rs376174942 | 6:105,781,287 | C/A | — | uncertain significance |
| rs1410302981 | 6:105,781,288 | G/A | — | uncertain significance |
| rs535207006 | 6:105,781,311 | G/A | — | uncertain significance |
| rs117979970 | 6:105,786,698 | G/A | intron variant | — |
| rs146643077 | 6:105,791,662 | C/A | intron variant | — |
| rs202011848 | 6:105,816,810 | G/T | — | uncertain significance |
| rs369220661 | 6:105,816,845 | G/A | — | uncertain significance |
| rs369321437 | 6:105,821,282 | A/T | — | uncertain significance |
| rs138316994 | 6:105,824,057 | C/A | — | uncertain significance |
| rs1474917244 | 6:105,825,262 | G/A | — | uncertain significance |
| rs145437152 | 6:105,825,280 | G/A | — | uncertain significance |
| rs2533882851 | 6:105,825,300 | T/C | — | uncertain significance |
| rs720225 | 6:105,842,330 | T/A | intron variant | — |
| rs761931460 | 6:105,845,745 | C/T | — | uncertain significance |
| rs1186844960 | 6:105,850,726 | G/A | — | uncertain significance |
| rs376223400 | 6:105,850,728 | C/A | — | uncertain significance |
| rs1159571761 | 6:105,850,742 | C/T | — | uncertain significance |
| rs1362953843 | 6:105,850,743 | G/C | — | uncertain significance |
| rs370227877 | 6:105,850,757 | G/A | — | likely benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.