TNFRSF13B

TNF receptor superfamily member 13B

Summary

The protein encoded by this gene is a lymphocyte-specific member of the tumor necrosis factor (TNF) receptor superfamily. It interacts with calcium-modulator and cyclophilin ligand (CAML). The protein induces activation of the transcription factors NFAT, AP1, and NF-kappa-B and plays a crucial role in humoral immunity by interacting with a TNF ligand. This gene is located within the Smith-Magenis syndrome region on chromosome 17. [provided by RefSeq, Jul 2008]

Known Variants273 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5570130617:16,842,447C/T—benign
rs88605265117:16,842,490G/A—uncertain significance
rs5605971417:16,842,508T/G—likely benign
rs54698633917:16,842,635T/C—likely benign
rs5615362317:16,842,688T/C—benign
rs208749133317:16,842,873G/T—likely benign
rs77810847117:16,842,874C/A—uncertain significance
rs120517870717:16,842,878C/T—uncertain significance
rs88605265217:16,842,886G/T—uncertain significance
rs250817809517:16,842,887C/T—uncertain significance
rs159765621917:16,842,900A/G—likely benign
rs250817814017:16,842,901A/G—uncertain significance
rs37495760117:16,842,905C/G—uncertain significance
rs1107835517:16,842,912A/G—benign
rs14438312217:16,842,915G/C—conflicting classifications of pathogenicity
rs76140065317:16,842,919G/A—uncertain significance
rs54091875517:16,842,920G/A—uncertain significance
rs20092443317:16,842,930G/A—likely benign
rs250817835617:16,842,932A/G—uncertain significance
rs75282552717:16,842,946G/A—uncertain significance
rs98632515817:16,842,955G/A—uncertain significance
rs76813317717:16,842,956T/C—uncertain significance
rs75329639317:16,842,958T/A—conflicting classifications of pathogenicity
rs92268552117:16,842,963C/T—likely benign
rs15066045117:16,842,964C/T—uncertain significance
rs147248842617:16,842,965C/T—uncertain significance
rs147396555117:16,842,966C/T—uncertain significance
rs76438783517:16,842,967C/T—uncertain significance
rs75742527817:16,842,969C/T—likely benign
rs214364000417:16,842,978A/G—likely benign
rs75854510617:16,842,979C/T—uncertain significance
rs11143911517:16,842,989C/T—conflicting classifications of pathogenicity
rs36758308917:16,842,990G/A—likely benign
rs3456225417:16,842,991G/Amissense variantbenign
rs56853516217:16,842,992G/A—uncertain significance
rs214364007717:16,842,998C/G—uncertain significance
rs214364008417:16,842,999A/C—likely benign
rs14963561117:16,843,003G/A—uncertain significance
rs37281696317:16,843,010C/T—uncertain significance
rs37189371117:16,843,011G/C—uncertain significance
rs76603433417:16,843,020C/T—likely benign
rs37025019617:16,843,021G/A—uncertain significance
rs19960334317:16,843,026C/T—likely benign
rs37589133717:16,843,027G/A—uncertain significance
rs20102196017:16,843,037C/A—uncertain significance
rs76537729917:16,843,038A/G—likely benign
rs75845335017:16,843,041G/A—likely benign
rs14571186517:16,843,050G/C—uncertain significance
rs141634001017:16,843,051C/A—uncertain significance
rs74687875417:16,843,053G/A—likely benign
rs145753826117:16,843,054C/T—uncertain significance
rs250817897017:16,843,059C/T—likely benign
rs250817903117:16,843,066G/C—uncertain significance
rs208749408817:16,843,069T/C—uncertain significance
rs76967064617:16,843,071G/A—likely benign
rs102334136117:16,843,076A/T—uncertain significance
rs53379652917:16,843,080G/A—likely benign
rs120116719517:16,843,081C/T—uncertain significance
rs5606372917:16,843,084A/G—likely benign
rs56760203717:16,843,094C/T—uncertain significance
rs77726564617:16,843,095G/A—likely benign
rs14456046417:16,843,102A/G—conflicting classifications of pathogenicity
rs75059858117:16,843,104C/T—likely benign
rs76316404117:16,843,105G/A—uncertain significance
rs14091472317:16,843,106C/T—uncertain significance
rs126972505417:16,843,108T/G—uncertain significance
rs19959289017:16,843,110A/G—likely benign
rs141214100617:16,843,113T/C—uncertain significance
rs75581493017:16,843,116A/G—likely benign
rs74888305117:16,843,121C/T—likely benign
rs37531476717:16,843,122G/A—likely benign
rs74536863917:16,843,124G/T—likely benign
rs1165281117:16,843,171A/G—benign
rs57384122317:16,843,195C/G——
rs36798834617:16,843,630A/G—likely benign
rs121014925017:16,843,632G/A—likely benign
rs95588826317:16,843,640C/G—uncertain significance
rs14784622617:16,843,653G/A—benign
rs77868072617:16,843,656C/T—likely benign
rs208750005317:16,843,659A/C—uncertain significance
rs10489464917:16,843,666C/Tmissense variantuncertain significance
rs14356235817:16,843,667G/A—conflicting classifications of pathogenicity
rs15097480717:16,843,678C/T—conflicting classifications of pathogenicity
rs14078182417:16,843,679G/A—conflicting classifications of pathogenicity
rs77133265817:16,843,687C/A—uncertain significance
rs250818174317:16,843,688A/G—uncertain significance
rs7255388517:16,843,692G/T—pathogenic
rs76412533817:16,843,694A/G—conflicting classifications of pathogenicity
rs75386782217:16,843,700C/T—uncertain significance
rs19981007517:16,843,701C/T—benign
rs141017258017:16,843,702C/T—uncertain significance
rs15010184817:16,843,703C/T—uncertain significance
rs37085615717:16,843,704C/G—uncertain significance
rs19977769817:16,843,705C/A—uncertain significance
rs208750097717:16,843,706T/C—uncertain significance
rs208750099317:16,843,707C/G—uncertain significance
rs7481108317:16,843,708T/G—uncertain significance
rs37346909017:16,843,710C/G—uncertain significance
rs91187275617:16,843,716G/A—likely benign
rs77822753517:16,843,717A/C—uncertain significance

Showing 100 of 273 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.