FCN2
ficolin 2
Summary
The product of this gene belongs to the ficolin family of proteins. This family is 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. This gene is predominantly expressed in the liver, and has been shown to have carbohydrate binding and opsonic activities. Alternatively spliced transcript variants encoding different isoforms have been identified. [provided by RefSeq, Jul 2008]
Known Variants42 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs559913271 | 9:137,762,508 | T/A | — | — |
| rs3128635 | 9:137,766,372 | C/T | intergenic variant | — |
| rs116915267 | 9:137,767,543 | A/T | intergenic variant | — |
| rs151094989 | 9:137,770,593 | G/A | upstream gene variant | — |
| rs3811140 | 9:137,772,111 | A/G | upstream gene variant | — |
| rs61736807 | 9:137,772,678 | A/T | — | benign |
| rs1026238495 | 9:137,772,690 | G/A | — | uncertain significance |
| rs55797213 | 9:137,772,700 | C/T | — | benign |
| rs778651615 | 9:137,774,389 | C/G | — | uncertain significance |
| rs775856372 | 9:137,774,396 | G/T | — | uncertain significance |
| rs73565979 | 9:137,774,755 | C/T | intron variant | — |
| rs138601974 | 9:137,775,153 | C/T | — | uncertain significance |
| rs376263285 | 9:137,775,154 | G/A | — | uncertain significance |
| rs372859655 | 9:137,775,199 | A/G | — | uncertain significance |
| rs543597653 | 9:137,776,607 | C/T | — | uncertain significance |
| rs12685659 | 9:137,776,719 | A/T | intron variant | — |
| rs772906937 | 9:137,777,088 | C/T | — | uncertain significance |
| rs55895215 | 9:137,777,090 | C/T | — | benign |
| rs147936623 | 9:137,777,100 | A/G | — | benign |
| rs17549179 | 9:137,777,120 | C/T | — | likely benign |
| rs752651278 | 9:137,777,166 | C/A | — | uncertain significance |
| rs745570304 | 9:137,777,189 | G/C | — | uncertain significance |
| rs749777267 | 9:137,777,196 | A/G | — | uncertain significance |
| rs199879528 | 9:137,777,198 | G/A | — | uncertain significance |
| rs139943705 | 9:137,777,218 | T/C | — | benign |
| rs12684512 | 9:137,777,504 | G/A | intron variant | — |
| rs78251566 | 9:137,777,653 | C/T | — | uncertain significance |
| rs141273504 | 9:137,777,658 | C/A | — | uncertain significance |
| rs1364735628 | 9:137,777,662 | G/A | — | uncertain significance |
| rs147569918 | 9:137,777,683 | G/A | — | uncertain significance |
| rs2491034423 | 9:137,777,699 | A/T | — | uncertain significance |
| rs780367191 | 9:137,777,728 | G/T | — | uncertain significance |
| rs12684723 | 9:137,777,788 | G/A | intron variant | — |
| rs766924885 | 9:137,778,356 | G/A | — | uncertain significance |
| rs2491036866 | 9:137,778,362 | G/T | — | uncertain significance |
| rs199687442 | 9:137,778,408 | C/T | — | uncertain significance |
| rs17549193 | 9:137,779,026 | C/T | missense variant | benign |
| rs7851696 | 9:137,779,091 | G/T | missense variant | benign |
| rs147940112 | 9:137,779,111 | T/A | — | likely benign |
| rs2491039221 | 9:137,779,115 | T/C | — | uncertain significance |
| rs143889100 | 9:137,779,245 | A/G | — | uncertain significance |
| rs76267164 | 9:137,779,251 | G/A | — | association |
Gene information from NCBI Gene. Variant classifications from ClinVar.