GBP5
guanylate binding protein 5
Summary
This gene belongs to the TRAFAC class dynamin-like GTPase superfamily. The encoded protein acts as an activator of NLRP3 inflammasome assembly and has a role in innate immunity and inflammation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2017]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs147711448 | 1:89,726,398 | C/T | — | likely benign |
| rs386352305 | 1:89,726,403 | G/A | — | uncertain significance |
| rs201853294 | 1:89,726,409 | T/C | — | uncertain significance |
| rs61729738 | 1:89,726,411 | G/A | — | likely benign |
| rs2523908587 | 1:89,727,968 | G/C | — | uncertain significance |
| rs148428819 | 1:89,728,008 | C/T | — | uncertain significance |
| rs370050284 | 1:89,728,036 | G/A | — | uncertain significance |
| rs145635162 | 1:89,728,041 | C/G | — | uncertain significance |
| rs373613494 | 1:89,728,054 | G/A | — | uncertain significance |
| rs190270139 | 1:89,728,280 | G/A | intron variant | — |
| rs771056238 | 1:89,728,376 | T/G | — | uncertain significance |
| rs1025670059 | 1:89,728,383 | G/A | — | uncertain significance |
| rs548599507 | 1:89,728,407 | T/G | — | uncertain significance |
| rs752318061 | 1:89,729,429 | T/C | — | uncertain significance |
| rs143662900 | 1:89,729,439 | C/T | — | uncertain significance |
| rs1557501570 | 1:89,729,537 | G/A | — | uncertain significance |
| rs1449121812 | 1:89,729,594 | C/T | — | likely benign |
| rs780781591 | 1:89,730,628 | G/A | — | uncertain significance |
| rs771123564 | 1:89,732,049 | C/A | — | uncertain significance |
| rs776917882 | 1:89,732,053 | C/G | — | uncertain significance |
| rs749973130 | 1:89,732,085 | A/G | — | uncertain significance |
| rs61730934 | 1:89,732,194 | T/C | — | benign |
| rs199813318 | 1:89,732,199 | C/T | — | uncertain significance |
| rs1208098863 | 1:89,732,676 | C/G | — | uncertain significance |
| rs773634569 | 1:89,732,730 | T/C | — | uncertain significance |
| rs575082350 | 1:89,732,745 | G/A | — | uncertain significance |
| rs146118174 | 1:89,732,754 | T/G | — | uncertain significance |
| rs777934466 | 1:89,733,110 | C/T | — | uncertain significance |
| rs552587881 | 1:89,734,521 | G/A | — | uncertain significance |
| rs201053085 | 1:89,735,078 | A/C | — | uncertain significance |
| rs61732483 | 1:89,735,081 | T/A | — | benign |
| rs753621187 | 1:89,735,120 | A/G | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.