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/Tuncertain significance
rs77523537514:55,817,155C/Tlikely benign
rs14370526614:55,817,173C/Tuncertain significance
rs76761096114:55,817,199A/Glikely benign
rs138815821914:55,817,245G/Tuncertain significance
rs54810080614:55,817,375G/Tuncertain significance
rs77455671014:55,817,392C/Tuncertain significance
rs188433852714:55,817,643C/Auncertain significance
rs76728954814:55,817,686G/Tuncertain significance
rs188434121914:55,817,694G/Auncertain significance
rs37277503414:55,817,730A/Tuncertain significance
rs76406739314:55,817,805C/Tuncertain significance
rs135966840314:55,817,929G/Auncertain significance
rs3484794614:55,817,930C/Tsynonymous variant
rs20006735014:55,817,941G/Auncertain significance
rs76475200614:55,817,946C/Tuncertain significance
rs74993885314:55,817,954G/Cuncertain significance
rs188435755514:55,817,977G/Auncertain significance
rs15037079814:55,817,998G/Auncertain significance
rs75118439214:55,818,064A/Guncertain significance
rs14203709814:55,818,117G/Cuncertain significance
rs14282163014:55,818,246G/Tuncertain significance
rs57112172314:55,818,283G/Alikely benign
rs14793002414:55,818,333G/Auncertain significance
rs250262652814:55,818,360T/Clikely benign
rs3507079914:55,818,403T/Cmissense variant
rs74782665914:55,818,502A/Guncertain significance
rs93025082014:55,818,525T/Cuncertain significance
rs250262834314:55,818,654G/Cuncertain significance
rs54981600414:55,818,697C/Tuncertain significance
rs156656952914:55,818,831A/Guncertain significance
rs76013031614:55,818,835C/Auncertain significance
rs127739303414:55,818,870A/Guncertain significance
rs75258260014:55,818,916G/Auncertain significance
rs250263126514:55,819,073C/Guncertain significance
rs37373684814:55,819,106G/Auncertain significance
rs101760345514:55,819,194C/Guncertain 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.