SETBP1

SET binding protein 1

Summary

This gene encodes a protein which contains a several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

Known Variants1,235 total

rsidPosition (GRCh37)AllelesClassClinVar
rs56374889318:42,260,911G/T—benign
rs7395291718:42,280,945G/A—benign
rs14528435418:42,281,148C/G—likely benign
rs133528093018:42,281,321A/G—uncertain significance
rs251133133718:42,281,336A/G—benign
rs134365876818:42,281,337G/C—benign
rs77622162218:42,281,342C/G—uncertain significance
rs53500220818:42,281,343G/A—conflicting classifications of pathogenicity
rs55145390418:42,281,355G/A—uncertain significance
rs76493570618:42,281,356C/T—benign
rs58778438118:42,281,357G/A—conflicting classifications of pathogenicity
rs143672400718:42,281,360T/C—uncertain significance
rs214419548118:42,281,366T/G—uncertain significance
rs214419550118:42,281,370T/C—uncertain significance
rs75819473518:42,281,373C/T—conflicting classifications of pathogenicity
rs74792580318:42,281,374G/A—likely benign
rs214419566518:42,281,378T/C—benign
rs251133172018:42,281,382C/T—uncertain significance
rs159900667818:42,281,389G/A—likely benign
rs75138988718:42,281,390C/T—uncertain significance
rs91598649218:42,281,394C/T—uncertain significance
rs137237743518:42,281,395A/G—likely benign
rs77217210218:42,281,396G/A—likely benign
rs129254321018:42,281,397C/T—uncertain significance
rs75508115918:42,281,407C/G—likely benign
rs123482999918:42,281,411G/T—uncertain significance
rs251133198018:42,281,412C/T—uncertain significance
rs57224952518:42,281,413A/C—benign
rs98595473118:42,281,420C/T—uncertain significance
rs74738868318:42,281,421C/T—likely benign
rs77154858518:42,281,422T/G—likely benign
rs206911456118:42,281,424T/C—uncertain significance
rs214419632618:42,281,428C/T—likely benign
rs214419638318:42,281,442C/G—uncertain significance
rs251133223418:42,281,445G/C—uncertain significance
rs251133224818:42,281,446G/A—likely benign
rs14686842618:42,281,452G/A—likely benign
rs37151607818:42,281,455C/G—uncertain significance
rs76470660418:42,281,457C/T—uncertain significance
rs36863439818:42,281,459G/A—likely benign
rs37287088118:42,281,464C/T—likely benign
rs75129971218:42,281,465G/A—benign
rs37546181718:42,281,466G/A—likely benign
rs132552839918:42,281,471C/T—conflicting classifications of pathogenicity
rs14071770918:42,281,472G/T—conflicting classifications of pathogenicity
rs251133250818:42,281,474A/G—uncertain significance
rs77881850718:42,281,476G/A—conflicting classifications of pathogenicity
rs127153451818:42,281,481C/T—likely benign
rs14859698418:42,281,482A/G—likely benign
rs206911592618:42,281,486G/A—uncertain significance
rs251133262218:42,281,488G/A—likely benign
rs206911598318:42,281,489G/A—uncertain significance
rs102937602018:42,281,496A/T—uncertain significance
rs251133277618:42,281,505C/T—uncertain significance
rs95503454618:42,281,510C/A—likely benign
rs77819636618:42,281,511G/A—conflicting classifications of pathogenicity
rs74737038518:42,281,515T/C—likely benign
rs206911678718:42,281,519G/T—uncertain significance
rs14297570318:42,281,521T/G—benign
rs15110817918:42,281,533C/A—uncertain significance
rs77036873318:42,281,535C/T—conflicting classifications of pathogenicity
rs11132455018:42,281,536G/A—likely benign
rs251133306318:42,281,541G/A—conflicting classifications of pathogenicity
rs251133310818:42,281,551G/A—pathogenic
rs76254050818:42,281,554G/A—likely benign
rs251133315418:42,281,555G/T—conflicting classifications of pathogenicity
rs77405917918:42,281,575G/A—likely benign
rs156809762318:42,281,576C/T—pathogenic
rs251133332518:42,281,585T/A—uncertain significance
rs214419796318:42,281,588A/G—uncertain significance
rs36852135918:42,281,599A/G—likely benign
rs94546855618:42,281,600A/G—likely benign
rs251133340518:42,281,601A/T—uncertain significance
rs20063981718:42,281,620G/A—likely benign
rs251133344718:42,281,622A/G—uncertain significance
rs19081871418:42,281,641A/G—benign
rs214419818318:42,281,645C/T—uncertain significance
rs251133359718:42,281,656A/G—likely benign
rs251133361218:42,281,657C/T—likely benign
rs251133365618:42,281,660C/G—uncertain significance
rs75270393418:42,281,663A/G—uncertain significance
rs75075704218:42,281,669T/C—likely benign
rs75187581718:42,281,687C/T—uncertain significance
rs206911886518:42,281,692T/A—likely benign
rs251133380918:42,281,694A/T—uncertain significance
rs19990621218:42,281,713G/A—likely benign
rs251133394118:42,281,716G/T—uncertain significance
rs251133395518:42,281,718C/G—uncertain significance
rs14418420618:42,281,723G/T—likely benign
rs251133399618:42,281,725C/T—likely benign
rs76819590118:42,281,738C/T—uncertain significance
rs77397182018:42,281,739G/A—likely benign
rs76141377218:42,281,744G/A—likely benign
rs251133414518:42,281,745G/C—likely benign
rs251133417318:42,281,751A/G—uncertain significance
rs251133419418:42,281,753A/G—likely benign
rs206911994018:42,281,762A/G—uncertain significance
rs54805689718:42,281,763C/T—likely benign
rs76057458018:42,281,764G/A—likely benign
rs105079925218:42,281,781G/A—conflicting classifications of pathogenicity

Showing 100 of 1,235 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.