PCOLCE
procollagen C-endopeptidase enhancer
Summary
Fibrillar collagen types I-III are synthesized as precursor molecules known as procollagens. These precursors contain amino- and carboxyl-terminal peptide extensions known as N- and C-propeptides, respectively, which are cleaved, upon secretion of procollagen from the cell, to yield the mature triple helical, highly structured fibrils. This gene encodes a glycoprotein which binds and drives the enzymatic cleavage of type I procollagen and heightens C-proteinase activity. [provided by RefSeq, Jul 2008]
Known Variants28 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs142421811 | 7:100,200,096 | C/G | — | uncertain significance |
| rs151268413 | 7:100,200,099 | C/A | — | uncertain significance |
| rs751918507 | 7:100,200,151 | G/C | — | uncertain significance |
| rs138299603 | 7:100,201,082 | A/T | — | uncertain significance |
| rs759981784 | 7:100,201,132 | C/G | — | uncertain significance |
| rs767765568 | 7:100,201,136 | A/G | — | uncertain significance |
| rs188377464 | 7:100,201,149 | C/G | — | uncertain significance |
| rs2486068697 | 7:100,201,589 | A/G | — | uncertain significance |
| rs1468718264 | 7:100,201,633 | C/A | — | uncertain significance |
| rs780560089 | 7:100,201,639 | C/G | — | uncertain significance |
| rs576889928 | 7:100,201,669 | T/C | — | uncertain significance |
| rs751515996 | 7:100,201,682 | G/C | — | uncertain significance |
| rs769356496 | 7:100,201,751 | A/G | — | uncertain significance |
| rs2486071647 | 7:100,202,805 | C/G | — | uncertain significance |
| rs1399204443 | 7:100,202,831 | C/G | — | likely benign |
| rs148943230 | 7:100,203,380 | G/T | — | uncertain significance |
| rs374118608 | 7:100,204,135 | G/A | — | likely benign |
| rs750369223 | 7:100,204,136 | C/A | — | likely benign |
| rs772512800 | 7:100,204,175 | C/T | — | uncertain significance |
| rs985332777 | 7:100,204,191 | A/G | — | uncertain significance |
| rs757343252 | 7:100,204,221 | C/T | — | uncertain significance |
| rs146209978 | 7:100,205,261 | G/A | — | benign |
| rs200657795 | 7:100,205,607 | G/A | — | likely benign |
| rs2486076083 | 7:100,205,639 | C/A | — | uncertain significance |
| rs112685211 | 7:100,205,641 | G/A | — | uncertain significance |
| rs891290121 | 7:100,205,700 | G/C | — | uncertain significance |
| rs117595600 | 7:100,205,703 | C/T | — | benign |
| rs61739556 | 7:100,205,706 | G/C | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.