CX3CR1
C-X3-C motif chemokine receptor 1
Summary
Fractalkine is a transmembrane protein and chemokine involved in the adhesion and migration of leukocytes. The protein encoded by this gene is a receptor for fractalkine. The encoded protein also is a coreceptor for HIV-1, and some variations in this gene lead to increased susceptibility to HIV-1 infection and rapid progression to AIDS. Four transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]
Known Variants40 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs11129820 | 3:39,304,794 | C/T | downstream gene variant | — |
| rs56181422 | 3:39,306,947 | A/G | — | benign |
| rs761652263 | 3:39,307,021 | G/A | — | uncertain significance |
| rs1037619539 | 3:39,307,022 | A/T | — | uncertain significance |
| rs150319988 | 3:39,307,049 | G/A | — | uncertain significance |
| rs776223203 | 3:39,307,151 | T/C | — | uncertain significance |
| rs3732378 | 3:39,307,162 | G/A | missense variant | pathogenic |
| rs542002411 | 3:39,307,169 | T/C | — | uncertain significance |
| rs1575205636 | 3:39,307,176 | G/A | — | likely benign |
| rs137854870 | 3:39,307,216 | A/G | — | not provided |
| rs765564346 | 3:39,307,229 | G/A | — | uncertain significance |
| rs55975803 | 3:39,307,236 | C/T | — | likely benign |
| rs3732379 | 3:39,307,256 | C/T | missense variant | pathogenic |
| rs780062312 | 3:39,307,267 | G/A | — | uncertain significance |
| rs2471581573 | 3:39,307,269 | C/G | — | uncertain significance |
| rs4986872 | 3:39,307,344 | A/G | — | likely benign |
| rs376411124 | 3:39,307,425 | A/G | — | likely benign |
| rs200607201 | 3:39,307,430 | G/A | — | likely benign |
| rs773508118 | 3:39,307,436 | C/T | — | uncertain significance |
| rs2471582065 | 3:39,307,454 | G/A | — | uncertain significance |
| rs868320190 | 3:39,307,472 | C/T | — | uncertain significance |
| rs370799413 | 3:39,307,516 | G/A | — | uncertain significance |
| rs17038679 | 3:39,307,545 | G/A | — | benign |
| rs2471582540 | 3:39,307,625 | C/A | — | uncertain significance |
| rs372076589 | 3:39,307,645 | A/G | — | uncertain significance |
| rs201442030 | 3:39,307,666 | C/G | — | likely benign |
| rs535968351 | 3:39,307,682 | C/T | — | uncertain significance |
| rs777824021 | 3:39,307,705 | T/C | — | uncertain significance |
| rs199811198 | 3:39,307,832 | T/C | — | likely benign |
| rs202143296 | 3:39,307,884 | G/A | — | likely benign |
| rs139019894 | 3:39,307,927 | T/C | — | likely benign |
| rs41535248 | 3:39,307,962 | A/C | — | benign |
| rs9868689 | 3:39,312,941 | C/T | intron variant | — |
| rs12636547 | 3:39,316,828 | G/T | — | — |
| rs2669845 | 3:39,321,218 | T/C | intron variant | — |
| rs11715522 | 3:39,323,163 | A/C | missense variant | — |
| rs759707908 | 3:39,323,166 | C/T | — | likely benign |
| rs147724093 | 3:39,323,177 | G/C | — | uncertain significance |
| rs2853707 | 3:39,324,283 | G/C | — | — |
| rs57938373 | 3:39,336,038 | C/A | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.