GBP3
guanylate binding protein 3
Summary
This gene encodes a member of the guanylate-binding protein (GBP) family. GBPs specifically bind guanine nucleotides (GMP, GDP, and GTP) and contain two of the three consensus motifs found in typical GTP-binding proteins. The encoded protein interacts with a member of the germinal center kinase family. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2017]
Known Variants32 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs748537304 | 1:89,473,447 | T/A | — | uncertain significance |
| rs114910977 | 1:89,473,453 | G/A | — | benign |
| rs549380651 | 1:89,473,525 | C/A | — | uncertain significance |
| rs773197183 | 1:89,474,726 | A/T | — | uncertain significance |
| rs200179940 | 1:89,474,738 | C/G | — | uncertain significance |
| rs1290205498 | 1:89,474,817 | C/T | — | uncertain significance |
| rs17433780 | 1:89,474,818 | A/G | missense variant | — |
| rs777766434 | 1:89,476,681 | C/T | — | uncertain significance |
| rs576261942 | 1:89,476,788 | G/T | — | likely benign |
| rs143333005 | 1:89,477,570 | T/C | — | uncertain significance |
| rs148436635 | 1:89,477,606 | C/T | — | uncertain significance |
| rs753121572 | 1:89,477,611 | G/A | — | uncertain significance |
| rs140270532 | 1:89,477,619 | T/C | — | uncertain significance |
| rs1188548253 | 1:89,477,648 | C/T | — | uncertain significance |
| rs747981376 | 1:89,478,942 | G/A | — | uncertain significance |
| rs369702754 | 1:89,478,979 | C/G | — | uncertain significance |
| rs370692800 | 1:89,479,011 | C/T | — | uncertain significance |
| rs375199876 | 1:89,479,012 | G/A | — | likely benign |
| rs373542431 | 1:89,479,026 | T/C | — | uncertain significance |
| rs762345559 | 1:89,479,062 | C/T | — | likely benign |
| rs1398239867 | 1:89,479,072 | G/A | — | uncertain significance |
| rs1435199280 | 1:89,479,793 | G/C | — | uncertain significance |
| rs143589515 | 1:89,480,306 | G/C | — | uncertain significance |
| rs1263331310 | 1:89,480,339 | C/T | — | uncertain significance |
| rs2523381093 | 1:89,481,083 | A/G | — | uncertain significance |
| rs576028010 | 1:89,482,990 | T/G | — | — |
| rs148562368 | 1:89,486,263 | G/A | — | uncertain significance |
| rs751384299 | 1:89,486,274 | A/G | — | uncertain significance |
| rs201358252 | 1:89,486,287 | C/T | — | uncertain significance |
| rs1679138824 | 1:89,486,358 | T/G | — | uncertain significance |
| rs141315930 | 1:89,486,376 | G/A | — | uncertain significance |
| rs190887626 | 1:89,487,544 | G/A | regulatory region variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.