FAS

Fas cell surface death receptor

Summary

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor contains a death domain. It has been shown to play a central role in the physiological regulation of programmed cell death, and has been implicated in the pathogenesis of various malignancies and diseases of the immune system. The interaction of this receptor with its ligand allows the formation of a death-inducing signaling complex that includes Fas-associated death domain protein (FADD), caspase 8, and caspase 10. The autoproteolytic processing of the caspases in the complex triggers a downstream caspase cascade, and leads to apoptosis. This receptor has been also shown to activate NF-kappaB, MAPK3/ERK1, and MAPK8/JNK, and is found to be involved in transducing the proliferating signals in normal diploid fibroblast and T cells. Several alternatively spliced transcript variants have been described, some of which are candidates for nonsense-mediated mRNA decay (NMD). The isoforms lacking the transmembrane domain may negatively regulate the apoptosis mediated by the full length isoform. [provided by RefSeq, Mar 2011]

Known Variants340 total

rsidPosition (GRCh37)AllelesClassClinVar
rs93845847810:90,750,346C/T—uncertain significance
rs77465617810:90,750,637C/T—likely benign
rs129092627010:90,750,648G/C—uncertain significance
rs213338442310:90,750,653T/C—likely pathogenic
rs184713876810:90,750,660T/C—likely benign
rs249479773310:90,750,665T/C—conflicting classifications of pathogenicity
rs184713942710:90,750,669C/T—uncertain significance
rs55807240410:90,750,675C/T—benign
rs20216552910:90,750,682G/T—likely benign
rs249479856410:90,750,683G/A—likely benign
rs203161010:90,754,487T/A——
rs706906110:90,754,909A/T——
rs157101310:90,758,349A/C——
rs1159167510:90,758,917T/C——
rs214742010:90,759,613A/Gregulatory region variant—
rs440673710:90,759,724A/Gregulatory region variant—
rs213347003410:90,762,773T/A—likely benign
rs88604745810:90,762,777A/G—uncertain significance
rs158946458510:90,762,778T/G—uncertain significance
rs76169289310:90,762,787T/C—uncertain significance
rs11302294910:90,762,788T/A—likely benign
rs37288066710:90,762,793C/T—uncertain significance
rs37719686710:90,762,794G/A—likely benign
rs321861910:90,762,801G/A—likely benign
rs119980743810:90,762,810T/C—uncertain significance
rs75433987510:90,762,811C/T—uncertain significance
rs75775487210:90,762,812G/A—likely benign
rs138120472510:90,762,821T/C—likely benign
rs77903983810:90,762,822G/A—uncertain significance
rs60623136410:90,762,828G/Amissense variantpathogenic
rs213347084610:90,762,832A/G—uncertain significance
rs74601753010:90,762,833A/G—likely benign
rs20162487410:90,762,834G/A—uncertain significance
rs184802328110:90,762,839T/C—conflicting classifications of pathogenicity
rs132374501310:90,762,842C/T—likely benign
rs86660302210:90,762,850C/A—uncertain significance
rs5576634410:90,762,852A/G—uncertain significance
rs249502011810:90,762,853A/C—uncertain significance
rs155484987810:90,762,857A/G—likely benign
rs933329610:90,762,858T/A—uncertain significance
rs213347125810:90,762,859T/G—uncertain significance
rs156468630110:90,762,865T/A—pathogenic
rs249502118610:90,762,870A/T—pathogenic
rs128652706510:90,762,891A/C—uncertain significance
rs55315694510:90,762,895A/G—conflicting classifications of pathogenicity
rs321862110:90,762,896G/A—benign
rs184802817210:90,762,899C/T—likely benign
rs249502193210:90,762,900T/C—likely benign
rs249502243910:90,762,908C/T—likely benign
rs75915231110:90,762,916A/G—uncertain significance
rs249502281210:90,762,917T/C—likely benign
rs14867705810:90,762,918G/C—uncertain significance
rs213347198210:90,762,929C/T—likely benign
rs249502335210:90,762,930T/A—uncertain significance
rs88604745910:90,762,931G/T—uncertain significance
rs75376791410:90,762,934A/G—uncertain significance
rs321861310:90,762,938A/G—benign
rs75778002210:90,762,940C/G—uncertain significance
rs249502439210:90,762,942T/C—uncertain significance
rs139367270010:90,762,950A/G—uncertain significance
rs37016273210:90,762,954A/C—uncertain significance
rs249502511310:90,762,956G/T—uncertain significance
rs78103421910:90,762,968A/G—likely benign
rs229660310:90,763,127C/Tregulatory region variantbenign
rs790165610:90,766,213T/Cintron variant—
rs965875010:90,766,596A/Gintron variant—
rs229660210:90,767,347C/T—benign
rs203161110:90,767,395G/C—benign
rs76568791110:90,767,439C/G—likely benign
rs18779339310:90,767,446T/A—likely benign
rs213350199610:90,767,449T/C—likely benign
rs156469141410:90,767,455A/G—likely pathogenic
rs213350209010:90,767,456G/A—likely pathogenic
rs125081072710:90,767,464G/T—uncertain significance
rs76642918010:90,767,476C/T—likely benign
rs75165476810:90,767,477T/G—uncertain significance
rs213350235510:90,767,478G/C—uncertain significance
rs222952110:90,767,482A/G—benign
rs100485164610:90,767,486A/C—uncertain significance
rs158947564910:90,767,490G/A—uncertain significance
rs249509850010:90,767,505G/A—uncertain significance
rs77775153310:90,767,506C/T—likely benign
rs19979026110:90,767,507G/A—uncertain significance
rs77105021610:90,767,509G/A—likely benign
rs77848378710:90,767,511C/T—uncertain significance
rs213350309110:90,767,519G/T—pathogenic
rs213350321510:90,767,524G/A—likely benign
rs74537599510:90,767,530G/A—likely benign
rs77169969810:90,767,539C/A—uncertain significance
rs158947580410:90,767,547A/G—uncertain significance
rs249510117910:90,767,561T/A—uncertain significance
rs249510157710:90,767,570T/C—uncertain significance
rs77010004510:90,767,578G/C—uncertain significance
rs184831582010:90,767,583A/G—likely pathogenic
rs184831600810:90,767,584T/C—likely benign
rs213350410910:90,767,592A/G—pathogenic
rs249510212310:90,767,593T/C—uncertain significance
rs249510220710:90,767,596T/C—pathogenic
rs184831649610:90,767,597A/C—conflicting classifications of pathogenicity
rs36769379510:90,767,605T/C—likely benign

Showing 100 of 340 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.