COLEC12
collectin subfamily member 12
Summary
This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. This protein is a scavenger receptor that displays several functions associated with host defense. It can bind to carbohydrate antigens on microorganisms, facilitating their recognition and removal. It also mediates the recognition, internalization, and degradation of oxidatively modified low density lipoprotein by vascular endothelial cells. [provided by RefSeq, May 2018]
Known Variants54 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs9952641 | 18:318,040 | G/A | downstream gene variant | — |
| rs4798065 | 18:320,993 | C/T | upstream gene variant | — |
| rs1404522800 | 18:321,680 | C/T | — | uncertain significance |
| rs764288261 | 18:321,698 | C/T | — | likely benign |
| rs772929526 | 18:321,766 | T/C | — | uncertain significance |
| rs142471510 | 18:321,773 | G/A | — | uncertain significance |
| rs621636 | 18:322,522 | C/T | regulatory region variant | — |
| rs373227938 | 18:331,713 | C/T | — | likely benign |
| rs149622251 | 18:331,717 | C/T | missense variant | — |
| rs2509903995 | 18:333,047 | T/A | — | uncertain significance |
| rs139504960 | 18:333,137 | G/A | — | uncertain significance |
| rs372108934 | 18:334,759 | G/A | — | uncertain significance |
| rs377719221 | 18:334,795 | G/A | — | uncertain significance |
| rs148864903 | 18:334,803 | T/C | — | benign |
| rs145828426 | 18:334,837 | G/A | missense variant | — |
| rs1285161607 | 18:334,870 | C/T | — | uncertain significance |
| rs369236821 | 18:334,966 | G/T | — | uncertain significance |
| rs778196915 | 18:334,972 | G/C | — | uncertain significance |
| rs777862586 | 18:335,057 | A/G | — | uncertain significance |
| rs376978607 | 18:335,075 | C/G | — | uncertain significance |
| rs188943034 | 18:335,093 | G/A | — | uncertain significance |
| rs565737372 | 18:335,116 | G/A | — | uncertain significance |
| rs146515222 | 18:346,444 | C/T | — | uncertain significance |
| rs140999458 | 18:346,549 | C/T | — | uncertain significance |
| rs370404532 | 18:346,585 | A/T | — | uncertain significance |
| rs763318328 | 18:346,663 | T/A | — | uncertain significance |
| rs760285722 | 18:346,679 | G/T | — | uncertain significance |
| rs778854178 | 18:346,701 | G/A | — | likely benign |
| rs147546703 | 18:346,714 | A/G | — | uncertain significance |
| rs769774733 | 18:346,750 | T/C | — | likely benign |
| rs962198288 | 18:346,822 | G/A | — | uncertain significance |
| rs2509914819 | 18:346,912 | A/G | — | uncertain significance |
| rs201989914 | 18:346,915 | C/T | — | uncertain significance |
| rs188912413 | 18:346,925 | C/A | — | uncertain significance |
| rs148602317 | 18:346,960 | G/A | — | uncertain significance |
| rs780378250 | 18:346,998 | G/C | — | uncertain significance |
| rs767611556 | 18:347,066 | T/C | — | uncertain significance |
| rs142117662 | 18:347,128 | G/C | — | uncertain significance |
| rs905694157 | 18:347,255 | G/A | — | uncertain significance |
| rs149126223 | 18:347,293 | G/A | — | uncertain significance |
| rs2509915362 | 18:347,303 | C/T | — | uncertain significance |
| rs780652534 | 18:348,158 | C/G | — | uncertain significance |
| rs2509916213 | 18:348,163 | A/G | — | uncertain significance |
| rs644435 | 18:355,944 | A/G | intron variant | — |
| rs111310285 | 18:357,427 | T/C | — | benign |
| rs180771503 | 18:357,487 | T/C | — | likely benign |
| rs139168766 | 18:391,120 | G/A | intron variant | — |
| rs72859298 | 18:393,057 | C/T | intron variant | — |
| rs72863533 | 18:423,712 | G/A | downstream gene variant | — |
| rs16944558 | 18:442,441 | C/T | intron variant | — |
| rs150754907 | 18:469,187 | C/T | regulatory region variant | — |
| rs765836901 | 18:480,712 | C/T | — | uncertain significance |
| rs72856626 | 18:480,802 | C/T | intron variant | — |
| rs9964194 | 18:502,359 | C/T | upstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.