CX3CL1
C-X3-C motif chemokine ligand 1
Summary
This gene belongs to the CX3C subgroup of chemokines, characterized by the number of amino acids located between the conserved cysteine residues. This is the only member of the CX3C subgroup, which contains three amino acids between cysteine residues, resulting in a Cys-X-X-X-Cys configuration. The encoded protein contains an extended mucin-like stalk with a chemokine domain on top, and exists in both a membrane-anchored form where it acts as a binding molecule, or, in soluble form, as a chemotactic cytokine. The mature form of this protein can be cleaved at the cell surface, yielding different soluble forms that can interact with the G-protein coupled receptor, C-X3-C motif chemokine receptor 1 gene product. This gene plays a role in a wide range of diseases, including cancer, vasculitis, neuropathies, atherosclerosis, inflammatory diseases, and in human immunodeficiency virus infections. [provided by RefSeq, Sep 2017]
Known Variants45 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs146188225 | 16:57,406,512 | G/T | — | uncertain significance |
| rs773579770 | 16:57,406,548 | C/A | — | uncertain significance |
| rs683544 | 16:57,408,778 | C/G | — | — |
| rs170364 | 16:57,409,934 | T/G | intron variant | benign |
| rs374124184 | 16:57,413,579 | C/T | — | uncertain significance |
| rs62037084 | 16:57,413,660 | C/T | — | benign |
| rs117270130 | 16:57,413,675 | T/C | — | benign |
| rs2543492175 | 16:57,415,967 | T/C | — | uncertain significance |
| rs140008646 | 16:57,416,003 | G/A | — | uncertain significance |
| rs2229164 | 16:57,416,005 | G/A | — | benign |
| rs1420122996 | 16:57,416,051 | G/A | — | uncertain significance |
| rs1358117084 | 16:57,416,075 | G/A | — | uncertain significance |
| rs2543492445 | 16:57,416,100 | C/T | — | uncertain significance |
| rs376350278 | 16:57,416,101 | C/T | — | likely benign |
| rs772149273 | 16:57,416,104 | C/T | — | benign |
| rs147669719 | 16:57,416,105 | G/A | — | likely benign |
| rs200354035 | 16:57,416,169 | C/A | — | uncertain significance |
| rs760152855 | 16:57,416,226 | C/T | — | uncertain significance |
| rs368032945 | 16:57,416,227 | G/A | — | likely benign |
| rs751730918 | 16:57,416,256 | T/C | — | uncertain significance |
| rs541210508 | 16:57,416,262 | C/T | — | uncertain significance |
| rs199869986 | 16:57,416,265 | C/T | — | uncertain significance |
| rs780537893 | 16:57,416,287 | G/T | — | likely benign |
| rs771801757 | 16:57,416,298 | C/T | — | uncertain significance |
| rs766949258 | 16:57,416,310 | G/A | — | uncertain significance |
| rs142113631 | 16:57,416,326 | C/T | — | benign |
| rs563993035 | 16:57,416,333 | G/A | — | likely benign |
| rs368270552 | 16:57,416,345 | A/G | — | uncertain significance |
| rs143145386 | 16:57,416,374 | C/G | — | uncertain significance |
| rs769810786 | 16:57,416,396 | T/A | — | uncertain significance |
| rs371682153 | 16:57,416,406 | C/G | — | uncertain significance |
| rs989097566 | 16:57,416,453 | G/T | — | uncertain significance |
| rs137886321 | 16:57,416,472 | C/T | — | likely benign |
| rs373175260 | 16:57,416,486 | C/T | — | uncertain significance |
| rs138968060 | 16:57,416,530 | G/A | — | benign |
| rs149398209 | 16:57,416,546 | G/A | — | uncertain significance |
| rs759588929 | 16:57,416,585 | G/A | — | uncertain significance |
| rs754502293 | 16:57,416,621 | G/A | — | uncertain significance |
| rs2543493754 | 16:57,416,633 | G/A | — | uncertain significance |
| rs2543493851 | 16:57,416,666 | A/G | — | uncertain significance |
| rs1256360582 | 16:57,416,756 | G/T | — | uncertain significance |
| rs202007210 | 16:57,416,892 | G/A | — | uncertain significance |
| rs377166131 | 16:57,416,903 | C/T | — | uncertain significance |
| rs767418752 | 16:57,416,918 | A/C | — | uncertain significance |
| rs614230 | 16:57,419,286 | C/T | downstream gene variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.