COLEC10
collectin subfamily member 10
Summary
This gene encodes a member of the C-lectin family, proteins that possess collagen-like sequences and carbohydrate recognition domains. The other members of this family are secreted proteins and bind to carbohydrate antigens on microorganisms facilitating their recognition and removal. This gene product is a cytosolic protein, a characteristic that suggests that it may have different biological functions than other C-lectins. [provided by RefSeq, Jul 2008]
Known Variants49 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs4242592 | 8:119,968,975 | T/G | regulatory region variant | — |
| rs10505348 | 8:119,972,696 | T/G | — | — |
| rs7839059 | 8:119,976,542 | C/A | intergenic variant | — |
| rs12679857 | 8:119,977,337 | A/G | intergenic variant | — |
| rs2062375 | 8:119,977,792 | G/A | — | — |
| rs2062377 | 8:120,007,420 | T/A | regulatory region variant | — |
| rs6469792 | 8:120,008,371 | T/A | — | — |
| rs7842942 | 8:120,008,587 | T/C | intron variant | — |
| rs4618726 | 8:120,009,385 | C/G | — | — |
| rs13260214 | 8:120,010,833 | G/C | — | — |
| rs11995824 | 8:120,012,700 | C/A | — | — |
| rs4424296 | 8:120,013,276 | C/T | intron variant | — |
| rs6469804 | 8:120,044,829 | G/A | intron variant | — |
| rs6993813 | 8:120,052,238 | T/A | — | — |
| rs10955924 | 8:120,053,343 | C/A | intron variant | — |
| rs2450083 | 8:120,063,542 | T/C | regulatory region variant | — |
| rs76528201 | 8:120,070,490 | T/G | downstream gene variant | — |
| rs149010496 | 8:120,079,545 | C/T | stop gained | pathogenic |
| rs923513295 | 8:120,079,593 | A/G | — | uncertain significance |
| rs146657673 | 8:120,079,626 | G/A | — | likely benign |
| rs918263036 | 8:120,079,630 | A/C | — | uncertain significance |
| rs1480704888 | 8:120,079,641 | A/G | — | uncertain significance |
| rs77510209 | 8:120,080,196 | A/G | coding sequence variant | — |
| rs1485300 | 8:120,082,253 | G/A | — | — |
| rs13261635 | 8:120,082,971 | T/C | regulatory region variant | — |
| rs7017788 | 8:120,088,685 | A/G | intron variant | — |
| rs2465404 | 8:120,090,859 | G/T | intron variant | — |
| rs151034823 | 8:120,092,036 | T/C | intron variant | — |
| rs2130257856 | 8:120,093,974 | A/C | — | uncertain significance |
| rs116835812 | 8:120,101,986 | G/A | — | benign |
| rs2242313 | 8:120,102,529 | C/G | intron variant | — |
| rs150828850 | 8:120,103,401 | A/C | missense variant | — |
| rs1328483710 | 8:120,103,453 | A/G | — | uncertain significance |
| rs2488338046 | 8:120,114,604 | G/A | — | uncertain significance |
| rs1377649723 | 8:120,114,618 | A/G | — | uncertain significance |
| rs370198813 | 8:120,114,620 | C/G | — | uncertain significance |
| rs73327239 | 8:120,114,645 | G/A | — | benign |
| rs2488341405 | 8:120,116,047 | T/A | — | uncertain significance |
| rs149331285 | 8:120,116,065 | C/T | missense variant | — |
| rs34834488 | 8:120,116,082 | A/G | — | benign |
| rs180713200 | 8:120,116,102 | G/A | — | uncertain significance |
| rs199524307 | 8:120,116,112 | A/T | — | likely benign |
| rs199764282 | 8:120,118,093 | A/G | — | uncertain significance |
| rs368598881 | 8:120,118,107 | G/C | — | uncertain significance |
| rs1587069771 | 8:120,118,121 | C/T | — | likely benign |
| rs773764995 | 8:120,118,124 | C/G | missense variant | pathogenic |
| rs115273924 | 8:120,118,131 | C/T | — | likely benign |
| rs755122786 | 8:120,118,355 | C/T | — | likely benign |
| rs2488346955 | 8:120,118,380 | T/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.