FCN1
ficolin 1
Summary
The ficolin family of proteins are characterized by the presence of a leader peptide, a short N-terminal segment, followed by a collagen-like region, and a C-terminal fibrinogen-like domain. The collagen-like and the fibrinogen-like domains are also found separately in other proteins such as complement protein C1q, C-type lectins known as collectins, and tenascins. However, all these proteins recognize different targets, and are functionally distinct. Ficolin 1 encoded by FCN1 is predominantly expressed in the peripheral blood leukocytes, and has been postulated to function as a plasma protein with elastin-binding activity. [provided by RefSeq, Jul 2008]
Known Variants38 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2989734 | 9:137,801,314 | A/G | downstream gene variant | — |
| rs375573892 | 9:137,801,352 | A/G | downstream gene variant | — |
| rs371244932 | 9:137,801,654 | C/T | — | uncertain significance |
| rs778695287 | 9:137,801,741 | C/T | — | uncertain significance |
| rs138055828 | 9:137,801,759 | T/C | missense variant | — |
| rs1071583 | 9:137,801,800 | T/C | synonymous variant | — |
| rs150625869 | 9:137,801,823 | A/G | — | uncertain significance |
| rs879636009 | 9:137,801,852 | G/A | — | uncertain significance |
| rs746424408 | 9:137,801,854 | G/A | — | likely benign |
| rs2490437383 | 9:137,801,861 | A/G | — | uncertain significance |
| rs775626408 | 9:137,803,000 | C/G | — | uncertain significance |
| rs541616038 | 9:137,803,098 | C/T | — | uncertain significance |
| rs1296171087 | 9:137,803,099 | G/A | — | uncertain significance |
| rs200874456 | 9:137,803,105 | C/T | — | uncertain significance |
| rs140379786 | 9:137,803,113 | C/T | — | uncertain significance |
| rs756450443 | 9:137,804,358 | T/C | — | uncertain significance |
| rs916542867 | 9:137,804,375 | C/G | — | uncertain significance |
| rs549932798 | 9:137,804,410 | C/A | — | uncertain significance |
| rs200075373 | 9:137,804,416 | A/G | — | uncertain significance |
| rs144829000 | 9:137,804,421 | C/T | — | uncertain significance |
| rs143226419 | 9:137,804,452 | G/T | — | likely benign |
| rs772642922 | 9:137,804,876 | C/T | — | uncertain significance |
| rs567374277 | 9:137,804,948 | G/A | — | likely benign |
| rs200663920 | 9:137,804,961 | G/T | — | uncertain significance |
| rs375520544 | 9:137,804,984 | G/A | — | uncertain significance |
| rs762049552 | 9:137,805,454 | C/T | — | uncertain significance |
| rs759096787 | 9:137,806,634 | G/C | — | uncertain significance |
| rs150223979 | 9:137,806,647 | C/T | — | uncertain significance |
| rs1199811280 | 9:137,808,218 | C/T | — | uncertain significance |
| rs1831092273 | 9:137,808,236 | C/T | — | uncertain significance |
| rs748813099 | 9:137,808,239 | C/T | — | uncertain significance |
| rs1831092883 | 9:137,808,256 | C/G | — | uncertain significance |
| rs372337686 | 9:137,808,276 | G/C | — | uncertain significance |
| rs140995990 | 9:137,809,196 | C/T | intron variant | — |
| rs565391562 | 9:137,809,673 | C/A | — | likely benign |
| rs10117466 | 9:137,809,861 | G/T | — | benign |
| rs10120023 | 9:137,810,259 | C/T | — | benign |
| rs2989727 | 9:137,811,698 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.