SBF1

SET binding factor 1

Summary

This gene encodes a member of the protein-tyrosine phosphatase family. However, the encoded protein does not appear to be a catalytically active phosphatase because it lacks several amino acids in the catalytic pocket. This protein contains a Guanine nucleotide exchange factor (GEF) domain which is necessary for its role in growth and differentiation. Mutations in this gene have been associated with Charcot-Marie-Tooth disease 4B3. Pseudogenes of this gene have been defined on chromosomes 1 and 8. [provided by RefSeq, Dec 2014]

Known Variants1,569 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11379572822:50,884,806C/A——
rs14843554422:50,885,459G/A—likely benign
rs105376422:50,885,495A/G—likely benign
rs37233237322:50,885,577G/A—likely benign
rs76776444722:50,885,580C/T—likely benign
rs37556508922:50,885,581G/A—uncertain significance
rs77881595722:50,885,589G/A—likely benign
rs77967670622:50,885,599C/T—conflicting classifications of pathogenicity
rs74686378322:50,885,600G/A—uncertain significance
rs252171950722:50,885,616G/C—likely benign
rs57156265122:50,885,619C/T—likely benign
rs76936304922:50,885,620G/A—uncertain significance
rs20010368322:50,885,623G/A—likely benign
rs252171964822:50,885,624G/A—uncertain significance
rs57236110722:50,885,626A/G—uncertain significance
rs55779137322:50,885,627C/T—uncertain significance
rs14648920622:50,885,628G/A—likely benign
rs77575185522:50,885,639A/C—uncertain significance
rs37566350622:50,885,640G/A—likely benign
rs76401972622:50,885,642A/G—uncertain significance
rs14105312222:50,885,649A/G—likely benign
rs75139108922:50,885,652G/A—likely benign
rs77009032822:50,885,656C/T—uncertain significance
rs74774773122:50,885,657G/A—uncertain significance
rs37113901322:50,885,658C/T—likely benign
rs37501242622:50,885,659G/A—uncertain significance
rs37684698322:50,885,660T/C—uncertain significance
rs143096178322:50,885,675G/A—likely benign
rs37061918022:50,885,680G/A—likely benign
rs77235238322:50,885,681C/G—likely benign
rs76442015522:50,885,682G/A—likely benign
rs206686637722:50,885,683G/A—likely benign
rs147168471522:50,885,684G/A—likely benign
rs20136825622:50,885,705A/Gdownstream gene variant—
rs37646615522:50,885,737C/T—likely benign
rs36843808322:50,885,738G/A—likely benign
rs56060114522:50,885,744G/A—likely benign
rs252172226522:50,885,748C/G—uncertain significance
rs128001187522:50,885,764T/G—uncertain significance
rs155641594022:50,885,765T/C—uncertain significance
rs20168592022:50,885,769G/A—likely benign
rs160343018722:50,885,771C/G—uncertain significance
rs105374422:50,885,775A/G—benign
rs129989011222:50,885,781A/C—likely benign
rs252172293422:50,885,788C/G—uncertain significance
rs78059933722:50,885,792T/C—uncertain significance
rs19277172622:50,885,795T/C—likely benign
rs37297490122:50,885,799C/T—likely benign
rs37495438122:50,885,800G/A—uncertain significance
rs134097829422:50,885,809G/A—uncertain significance
rs214854936222:50,885,810C/T—uncertain significance
rs37008708222:50,885,826C/T—likely benign
rs37353431922:50,885,827G/A—uncertain significance
rs37763507122:50,885,835G/A—likely benign
rs74992418822:50,885,845T/C—uncertain significance
rs77954789822:50,885,855T/C—uncertain significance
rs20214994522:50,885,863C/T—conflicting classifications of pathogenicity
rs54780777922:50,885,864G/A—uncertain significance
rs105284999522:50,885,870C/T—uncertain significance
rs14477385322:50,885,871G/C—likely pathogenic
rs77819646022:50,885,874G/A—likely benign
rs77106649422:50,885,888G/A—conflicting classifications of pathogenicity
rs77430425422:50,885,890A/C—likely benign
rs74691272222:50,885,892G/T—likely benign
rs104171451022:50,885,895A/G—likely benign
rs11131496222:50,885,896C/G—likely benign
rs20020300322:50,885,931C/A—likely benign
rs37146613922:50,885,933C/T—likely benign
rs76606240722:50,885,934A/C—likely benign
rs99119716022:50,885,936C/G—likely benign
rs206688073422:50,885,941G/C—likely benign
rs155641615922:50,885,959T/C—uncertain significance
rs105751911622:50,885,968C/G—uncertain significance
rs36828256322:50,885,975G/A—likely benign
rs74595801222:50,885,982C/T—uncertain significance
rs96152030922:50,885,984G/A—likely benign
rs155641621622:50,885,991C/G—uncertain significance
rs214855006622:50,885,992A/G—uncertain significance
rs120966571422:50,885,994G/A—uncertain significance
rs214855007622:50,885,995G/A—uncertain significance
rs206688304222:50,886,000A/G—uncertain significance
rs75834571922:50,886,001T/C—uncertain significance
rs37184220922:50,886,008C/A—likely benign
rs206688378222:50,886,020C/T—likely benign
rs206688384722:50,886,022G/A—likely benign
rs252172742822:50,886,026G/A—likely benign
rs77751330522:50,886,029C/T—likely benign
rs18436063422:50,886,032G/A—likely benign
rs36789448622:50,886,042C/G—likely benign
rs133749814122:50,886,049A/G—likely benign
rs577098022:50,886,220T/C—benign
rs7649874922:50,886,233A/C—likely benign
rs7507531122:50,886,378G/A—likely benign
rs601004122:50,886,557G/A—benign
rs252173705022:50,886,642A/C—likely benign
rs252173709622:50,886,644T/C—likely benign
rs133287037522:50,886,655C/T—likely benign
rs37582862822:50,886,694G/A—likely benign
rs148232342922:50,886,711T/G—uncertain significance
rs55928604822:50,886,713C/T—uncertain significance

Showing 100 of 1,569 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.