RELA

RELA proto-oncogene, NF-kB subunit

Summary

NF-kappa-B is a ubiquitous transcription factor involved in several biological processes. It is held in the cytoplasm in an inactive state by specific inhibitors. Upon degradation of the inhibitor, NF-kappa-B moves to the nucleus and activates transcription of specific genes. NF-kappa-B is composed of NFKB1 or NFKB2 bound to either REL, RELA, or RELB. The most abundant form of NF-kappa-B is NFKB1 complexed with the product of this gene, RELA. Four transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]

Known Variants317 total

rsidPosition (GRCh37)AllelesClassClinVar
rs249682215711:65,421,850T/C—likely benign
rs7859988411:65,421,852G/A—likely benign
rs249682222411:65,421,860T/A—uncertain significance
rs95187764811:65,421,861C/T—likely benign
rs37490866311:65,421,872G/A—likely benign
rs122765511511:65,421,879G/T—uncertain significance
rs37552515811:65,421,887T/C—uncertain significance
rs19984619811:65,421,892G/A—conflicting classifications of pathogenicity
rs249682254811:65,421,893C/T—uncertain significance
rs138212231511:65,421,896T/C—uncertain significance
rs249682261211:65,421,897G/A—likely benign
rs249682264311:65,421,898G/C—uncertain significance
rs75475521311:65,421,909T/A—uncertain significance
rs74808468511:65,421,918T/C—likely benign
rs20103760111:65,421,923G/T—conflicting classifications of pathogenicity
rs120523354211:65,421,924G/A—likely benign
rs74651909511:65,421,931T/C—uncertain significance
rs37688159811:65,421,942C/T—likely benign
rs75917849511:65,421,953G/A—likely benign
rs36900851111:65,421,964G/C—uncertain significance
rs37389824211:65,421,966T/C—likely benign
rs20076750611:65,421,968G/T—uncertain significance
rs76356731511:65,421,972G/A—likely benign
rs249682377111:65,421,977G/A—uncertain significance
rs136324602011:65,421,978C/T—likely benign
rs249682381911:65,421,980T/G—likely benign
rs249682383711:65,421,981C/G—likely benign
rs54015856011:65,421,985G/A—uncertain significance
rs249682394011:65,421,986C/T—uncertain significance
rs147210235211:65,421,999G/A—likely benign
rs115727847011:65,422,007T/C—uncertain significance
rs138795705211:65,422,010C/A—uncertain significance
rs75064632411:65,422,014A/G—likely benign
rs75629785711:65,422,020C/G—uncertain significance
rs75839828911:65,422,035C/T—likely benign
rs213554868911:65,422,037C/T—uncertain significance
rs54665498211:65,422,044G/T—uncertain significance
rs74657957511:65,422,047G/T—likely benign
rs56689072711:65,422,048G/A—uncertain significance
rs37475124211:65,422,051G/A—uncertain significance
rs213554877611:65,422,063C/T—uncertain significance
rs74551001811:65,422,064C/A—uncertain significance
rs76942937111:65,422,082G/C—uncertain significance
rs53557678911:65,422,086C/G—uncertain significance
rs15049331211:65,422,089G/A—likely benign
rs77497372811:65,422,098G/A—likely benign
rs76234433611:65,422,101G/T—likely benign
rs249682507311:65,422,127G/C—uncertain significance
rs75148096211:65,422,137G/A—likely benign
rs249682525311:65,422,159T/G—uncertain significance
rs213554914711:65,422,170A/G—likely benign
rs77981695811:65,422,178G/A—likely benign
rs147776578211:65,422,180T/G—uncertain significance
rs139066313811:65,422,189G/T—uncertain significance
rs74971679611:65,422,195G/C—likely pathogenic
rs249682558811:65,422,198A/G—uncertain significance
rs37092991711:65,422,200C/T—likely benign
rs55578594411:65,422,201G/A—uncertain significance
rs249682567311:65,422,205C/A—pathogenic
rs77471820711:65,422,208C/T—uncertain significance
rs213554932011:65,422,209C/T—likely benign
rs249682572911:65,422,212A/C—likely benign
rs129771125411:65,422,216T/C—uncertain significance
rs57565979511:65,422,221G/A—likely benign
rs76077787811:65,422,227G/A—likely benign
rs249682593511:65,422,231G/A—uncertain significance
rs128794898011:65,422,244C/G—uncertain significance
rs37576803411:65,422,246G/A—likely benign
rs249682614011:65,422,255G/A—uncertain significance
rs145123761711:65,422,261G/A—uncertain significance
rs118664500311:65,422,262G/A—uncertain significance
rs75971558611:65,422,263G/A—likely benign
rs185637742211:65,422,288G/A—uncertain significance
rs139027842311:65,422,295C/G—uncertain significance
rs126305535911:65,422,298G/C—uncertain significance
rs120822051011:65,422,321G/C—uncertain significance
rs134647454311:65,422,334G/A—uncertain significance
rs147225379011:65,422,338C/T—likely benign
rs88764112111:65,422,341G/A—likely benign
rs141349330811:65,422,342G/A—uncertain significance
rs145515332211:65,422,347G/A—likely benign
rs77965927211:65,422,351T/C—uncertain significance
rs213554995111:65,422,352G/A—pathogenic
rs1272157411:65,422,362C/T—benign
rs132736924811:65,422,365G/A—likely benign
rs122779843511:65,422,370A/G—likely benign
rs711657111:65,422,374C/T—benign
rs74854591311:65,422,375G/A—uncertain significance
rs148524570211:65,422,378G/A—uncertain significance
rs213555013011:65,422,383G/A—likely benign
rs249682783511:65,422,391G/A—pathogenic
rs249682784611:65,422,392C/T—likely benign
rs249682804311:65,422,407C/T—uncertain significance
rs119082216911:65,422,413G/A—likely benign
rs14914554811:65,422,425A/C—pathogenic
rs75976642311:65,422,435G/A—uncertain significance
rs14322916211:65,422,440C/T—likely benign
rs249682848711:65,422,442G/C—uncertain significance
rs134709402611:65,422,444G/A—uncertain significance
rs54017209911:65,422,449C/T—likely benign

Showing 100 of 317 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.