FBH1
F-box DNA helicase 1
Summary
This gene encodes a member of the F-box protein family, members of which are characterized by an approximately 40 amino acid motif, the F-box. The F-box proteins constitute one of the four subunits of ubiquitin protein ligase complex called SCFs (SKP1-cullin-F-box), which function in phosphorylation-dependent ubiquitination. The F-box proteins are divided into three classes: Fbws containing WD-40 domains, Fbls containing leucine-rich repeats, and Fbxs containing either different protein-protein interaction modules or no recognizable motifs. The protein encoded by this gene belongs to the Fbx class. It contains an F-box motif and seven conserved helicase motifs, and has both DNA-dependent ATPase and DNA unwinding activities. Alternatively spliced transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Jul 2008]
Known Variants62 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs750220283 | 10:5,937,076 | G/A | — | uncertain significance |
| rs770714076 | 10:5,937,084 | G/A | — | uncertain significance |
| rs1182471323 | 10:5,937,085 | G/A | — | uncertain significance |
| rs745740691 | 10:5,937,103 | G/A | — | uncertain significance |
| rs770334474 | 10:5,937,143 | C/G | — | uncertain significance |
| rs142553018 | 10:5,944,998 | G/A | — | uncertain significance |
| rs2538471634 | 10:5,945,022 | G/A | — | uncertain significance |
| rs140405526 | 10:5,945,129 | G/A | — | uncertain significance |
| rs149557052 | 10:5,945,743 | A/G | intron variant | — |
| rs202040166 | 10:5,948,000 | G/A | — | uncertain significance |
| rs1404123901 | 10:5,948,009 | G/A | — | uncertain significance |
| rs199982161 | 10:5,948,051 | C/T | — | uncertain significance |
| rs2538504942 | 10:5,948,053 | T/G | — | uncertain significance |
| rs2538506322 | 10:5,948,156 | A/T | — | uncertain significance |
| rs138401972 | 10:5,948,170 | G/C | — | likely benign |
| rs143782854 | 10:5,948,174 | C/T | — | likely benign |
| rs746466502 | 10:5,948,221 | T/G | — | uncertain significance |
| rs578126156 | 10:5,948,252 | C/G | — | uncertain significance |
| rs761110537 | 10:5,948,279 | A/G | — | uncertain significance |
| rs1347003753 | 10:5,948,342 | A/G | — | uncertain significance |
| rs2538509064 | 10:5,948,348 | G/A | — | uncertain significance |
| rs143001244 | 10:5,948,356 | C/T | — | uncertain significance |
| rs887914766 | 10:5,948,360 | T/C | — | uncertain significance |
| rs143135958 | 10:5,948,374 | G/T | — | uncertain significance |
| rs781058434 | 10:5,948,387 | A/G | — | uncertain significance |
| rs2538510215 | 10:5,948,413 | C/G | — | uncertain significance |
| rs1813849343 | 10:5,948,521 | C/T | — | uncertain significance |
| rs779536901 | 10:5,951,126 | A/G | — | uncertain significance |
| rs776229671 | 10:5,951,151 | G/A | — | uncertain significance |
| rs374655960 | 10:5,952,926 | C/T | — | uncertain significance |
| rs2538560696 | 10:5,952,952 | G/C | — | uncertain significance |
| rs746558346 | 10:5,953,018 | G/A | — | likely benign |
| rs142910031 | 10:5,955,763 | A/G | — | uncertain significance |
| rs139848196 | 10:5,956,196 | G/C | — | uncertain significance |
| rs2538602763 | 10:5,956,203 | T/C | — | uncertain significance |
| rs2538631177 | 10:5,958,198 | T/G | — | uncertain significance |
| rs769534923 | 10:5,958,319 | T/A | — | uncertain significance |
| rs775835608 | 10:5,959,405 | G/A | — | uncertain significance |
| rs2538663175 | 10:5,960,346 | T/C | — | uncertain significance |
| rs1016529252 | 10:5,960,405 | C/A | — | uncertain significance |
| rs779157463 | 10:5,960,424 | G/A | — | uncertain significance |
| rs138946203 | 10:5,960,430 | T/C | — | uncertain significance |
| rs193921138 | 10:5,963,227 | C/T | — | uncertain significance |
| rs1198128069 | 10:5,963,456 | G/A | — | uncertain significance |
| rs201863753 | 10:5,965,620 | A/G | — | uncertain significance |
| rs2538712504 | 10:5,965,637 | G/C | — | uncertain significance |
| rs750217662 | 10:5,966,298 | T/G | — | uncertain significance |
| rs199605113 | 10:5,966,330 | A/G | — | uncertain significance |
| rs769272294 | 10:5,966,354 | G/A | — | uncertain significance |
| rs147442889 | 10:5,966,355 | C/T | — | uncertain significance |
| rs2538722663 | 10:5,966,360 | G/A | — | uncertain significance |
| rs2538723143 | 10:5,966,412 | G/A | — | uncertain significance |
| rs2538733939 | 10:5,967,335 | A/G | — | uncertain significance |
| rs764751665 | 10:5,967,419 | C/T | — | uncertain significance |
| rs151032401 | 10:5,978,473 | C/T | — | uncertain significance |
| rs2538828314 | 10:5,978,480 | G/A | — | uncertain significance |
| rs749762089 | 10:5,979,119 | C/T | — | uncertain significance |
| rs764714926 | 10:5,979,172 | C/T | — | uncertain significance |
| rs754102686 | 10:5,979,173 | G/A | — | likely benign |
| rs2538836856 | 10:5,979,187 | A/C | — | uncertain significance |
| rs2538836946 | 10:5,979,196 | A/T | — | uncertain significance |
| rs770703881 | 10:5,979,235 | G/A | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.