TRIP4

thyroid hormone receptor interactor 4

Summary

This gene encodes a subunit of the tetrameric nuclear activating signal cointegrator 1 (ASC-1) complex, which associates with transcriptional coactivators, nuclear receptors and basal transcription factors to facilitate nuclear receptors-mediated transcription. This protein is localized in the nucleus and contains an E1A-type zinc finger domain, which mediates interaction with transcriptional coactivators and ligand-bound nuclear receptors, such as thyroid hormone receptor and retinoid X receptor alpha, but not glucocorticoid receptor. Mutations in this gene are associated with spinal muscular atrophy with congenital bone fractures-1 (SMABF1). [provided by RefSeq, Apr 2016]

Known Variants202 total

rsidPosition (GRCh37)AllelesClassClinVar
rs11608969215:64,679,890G/A—likely benign
rs14984701415:64,679,939G/A—likely benign
rs121300671515:64,680,067C/T—uncertain significance
rs104087822615:64,680,082T/C—conflicting classifications of pathogenicity
rs3560499015:64,680,083G/C—benign
rs142273139015:64,680,084T/G—uncertain significance
rs127131294215:64,680,085C/G—uncertain significance
rs14749697515:64,680,093C/T—uncertain significance
rs77973577315:64,680,097T/G—uncertain significance
rs37184235715:64,680,098G/A—likely benign
rs76847972515:64,680,111A/G—uncertain significance
rs189999518715:64,680,117C/G—uncertain significance
rs76879786615:64,680,121T/A—pathogenic
rs134633308015:64,680,137C/T—likely benign
rs128489521115:64,680,170A/C—likely benign
rs11459212315:64,680,171C/T—likely benign
rs126341843015:64,680,176C/T—likely benign
rs1694792715:64,680,391C/A—benign
rs14130014715:64,680,392A/G—likely benign
rs7843414015:64,680,409A/G—likely benign
rs18769801715:64,682,962C/Tupstream gene variant—
rs11618338215:64,685,933C/T—likely benign
rs37536065815:64,686,127A/G—likely benign
rs138600232215:64,686,141T/C—likely benign
rs37764526615:64,686,149G/A—uncertain significance
rs130032088815:64,686,155T/A—uncertain significance
rs14732147815:64,686,158A/G—uncertain significance
rs55366743515:64,686,179C/T—pathogenic
rs20216440015:64,686,180G/A—uncertain significance
rs76099609315:64,686,186A/G—uncertain significance
rs20067794315:64,686,199C/G—likely benign
rs250540315715:64,686,203C/T—pathogenic
rs14880325515:64,686,265T/C—likely benign
rs250540338515:64,686,288C/T—uncertain significance
rs11505156215:64,686,298G/A—likely benign
rs15082749715:64,686,301C/T—likely benign
rs250540345415:64,686,308A/T—pathogenic
rs75260770915:64,686,332T/C—likely benign
rs7752714215:64,686,387T/A—benign
rs1107179415:64,686,432A/G—benign
rs103185014015:64,687,585C/T—likely benign
rs37403289215:64,687,596G/T—likely pathogenic
rs13928191715:64,687,623G/A—uncertain significance
rs77967298715:64,687,639G/T—uncertain significance
rs155540885215:64,687,675C/T—uncertain significance
rs19970710015:64,687,692A/G—uncertain significance
rs37502828915:64,687,693C/T—uncertain significance
rs14658975815:64,687,694G/A—likely benign
rs75001170015:64,687,718T/C—likely benign
rs74663128015:64,687,727C/A—likely benign
rs190026711315:64,687,746T/C—likely benign
rs7592000815:64,687,954T/C—likely benign
rs76099859815:64,689,799C/T—likely benign
rs76894016815:64,689,809A/G—uncertain significance
rs14411338615:64,689,826G/A—uncertain significance
rs250541049015:64,689,844T/C—uncertain significance
rs7669787115:64,689,851A/G—likely benign
rs37654656715:64,689,869G/T—uncertain significance
rs250541058015:64,689,871C/T—pathogenic
rs190033313115:64,689,873G/A—likely benign
rs75428675115:64,689,880C/T—uncertain significance
rs20119939015:64,689,883G/T—likely benign
rs139092997115:64,689,891G/A—likely benign
rs143348631615:64,689,904C/G—uncertain significance
rs214028360515:64,689,911G/A—uncertain significance
rs14300473315:64,689,929A/G—uncertain significance
rs20017765315:64,689,933C/G—uncertain significance
rs11165837115:64,689,964C/T—uncertain significance
rs76725249115:64,689,970G/A—uncertain significance
rs3510354715:64,689,981A/G—benign
rs250541098215:64,690,002A/G—likely benign
rs190033835715:64,690,014T/C—likely benign
rs54386417215:64,690,030T/G—likely benign
rs76859607315:64,690,034C/T—likely benign
rs1289900215:64,692,655G/A—benign
rs92997939315:64,692,926T/C—likely benign
rs11291328115:64,692,931C/G—benign
rs37420105815:64,692,933A/G—likely benign
rs89707640815:64,692,948A/C—uncertain significance
rs76436321115:64,692,967T/C—uncertain significance
rs37730440415:64,693,001G/A—likely benign
rs125567079715:64,693,014A/G—uncertain significance
rs250541729915:64,693,016G/C—uncertain significance
rs15049130815:64,693,050G/A—likely benign
rs37722653415:64,693,060G/A—likely benign
rs54582633315:64,698,536G/A—likely benign
rs250542764115:64,698,543G/A—uncertain significance
rs37342403615:64,698,546A/C—uncertain significance
rs37301577115:64,698,584A/G—likely benign
rs86931282715:64,698,591C/Tstop gainedpathogenic
rs14396896315:64,698,592G/A—uncertain significance
rs76795869415:64,698,608G/A—likely benign
rs98061769515:64,698,638G/A—likely benign
rs137805602515:64,698,647T/C—likely benign
rs250542798715:64,698,659G/T—likely pathogenic
rs13982971315:64,698,836A/G—likely benign
rs14671049815:64,698,935C/T—likely benign
rs13981307415:64,701,796G/C—likely benign
rs76186559215:64,701,816C/Tstop gainedpathogenic
rs20137702215:64,701,858A/G—likely benign

Showing 100 of 202 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.