FBXO34

F-box protein 34

Summary

Members of the F-box protein family, such as FBXO34, are characterized by an approximately 40-amino acid F-box motif. SCF complexes, formed by SKP1 (MIM 601434), cullin (see CUL1; MIM 603134), and F-box proteins, act as protein-ubiquitin ligases. F-box proteins interact with SKP1 through the F box, and they interact with ubiquitination targets through other protein interaction domains (Jin et al., 2004 [PubMed 15520277]).[supplied by OMIM, Mar 2008]

Known Variants45 total

rsidPosition (GRCh37)AllelesClassClinVar
rs714674814:55,747,086G/T——
rs802222514:55,767,069A/Gdownstream gene variant—
rs657301714:55,802,243G/T——
rs54830535114:55,805,845T/C——
rs250261860514:55,817,133C/T—uncertain significance
rs77523537514:55,817,155C/T—likely benign
rs14370526614:55,817,173C/T—uncertain significance
rs76761096114:55,817,199A/G—likely benign
rs138815821914:55,817,245G/T—uncertain significance
rs54810080614:55,817,375G/T—uncertain significance
rs77455671014:55,817,392C/T—uncertain significance
rs188433852714:55,817,643C/A—uncertain significance
rs76728954814:55,817,686G/T—uncertain significance
rs188434121914:55,817,694G/A—uncertain significance
rs37277503414:55,817,730A/T—uncertain significance
rs76406739314:55,817,805C/T—uncertain significance
rs135966840314:55,817,929G/A—uncertain significance
rs3484794614:55,817,930C/Tsynonymous variant—
rs20006735014:55,817,941G/A—uncertain significance
rs76475200614:55,817,946C/T—uncertain significance
rs74993885314:55,817,954G/C—uncertain significance
rs188435755514:55,817,977G/A—uncertain significance
rs15037079814:55,817,998G/A—uncertain significance
rs75118439214:55,818,064A/G—uncertain significance
rs14203709814:55,818,117G/C—uncertain significance
rs14282163014:55,818,246G/T—uncertain significance
rs57112172314:55,818,283G/A—likely benign
rs14793002414:55,818,333G/A—uncertain significance
rs250262652814:55,818,360T/C—likely benign
rs3507079914:55,818,403T/Cmissense variant—
rs74782665914:55,818,502A/G—uncertain significance
rs93025082014:55,818,525T/C—uncertain significance
rs250262834314:55,818,654G/C—uncertain significance
rs54981600414:55,818,697C/T—uncertain significance
rs156656952914:55,818,831A/G—uncertain significance
rs76013031614:55,818,835C/A—uncertain significance
rs127739303414:55,818,870A/G—uncertain significance
rs75258260014:55,818,916G/A—uncertain significance
rs250263126514:55,819,073C/G—uncertain significance
rs37373684814:55,819,106G/A—uncertain significance
rs101760345514:55,819,194C/G—uncertain significance
rs715914414:55,821,324G/C——
rs7938053214:55,821,528G/Aregulatory region variant—
rs1774359514:55,901,926A/Gintron variant—
rs11733624014:55,904,766A/Gregulatory region variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.