CD27

CD27 molecule

Summary

The protein encoded by this gene is a member of the TNF-receptor superfamily. This receptor is required for generation and long-term maintenance of T cell immunity. It binds to ligand CD70, and plays a key role in regulating B-cell activation and immunoglobulin synthesis. This receptor transduces signals that lead to the activation of NF-kappaB and MAPK8/JNK. Adaptor proteins TRAF2 and TRAF5 have been shown to mediate the signaling process of this receptor. CD27-binding protein (SIVA), a proapoptotic protein, can bind to this receptor and is thought to play an important role in the apoptosis induced by this receptor. [provided by RefSeq, Jul 2008]

Known Variants179 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1156936012:6,553,792C/G—benign
rs1156936112:6,553,806A/G—benign
rs313655112:6,553,860G/A—benign
rs194939386512:6,554,262A/G—uncertain significance
rs75577504312:6,554,268C/T—uncertain significance
rs77646965012:6,554,269G/A—uncertain significance
rs125995136612:6,554,276T/A—uncertain significance
rs194939441612:6,554,283T/C—uncertain significance
rs39812293312:6,554,285G/Astop gainedpathogenic
rs249810432112:6,554,286C/T—likely benign
rs3454005212:6,554,291C/T—likely benign
rs77244987212:6,554,292G/A—conflicting classifications of pathogenicity
rs14672686312:6,554,298G/A—uncertain significance
rs76900490912:6,554,299G/T—uncertain significance
rs213696021712:6,554,303C/A—likely benign
rs249810457312:6,554,312G/C—likely benign
rs55368686812:6,554,324T/A—likely benign
rs97538848212:6,554,328G/A—uncertain significance
rs249810485112:6,554,333C/G—likely benign
rs213696026512:6,554,334A/G—uncertain significance
rs77356751212:6,554,338G/A—uncertain significance
rs126513113512:6,554,349A/G—uncertain significance
rs117944854912:6,554,359G/A—likely pathogenic
rs136645046812:6,554,362C/T—uncertain significance
rs36983946812:6,554,367G/A—uncertain significance
rs103275279912:6,554,375G/A—likely benign
rs75225957812:6,554,383A/G—uncertain significance
rs123003271112:6,554,390T/C—likely benign
rs194939702812:6,554,391G/A—uncertain significance
rs130504147312:6,554,394C/T—uncertain significance
rs194939734312:6,554,405G/A—likely benign
rs75346597212:6,554,407G/A—likely benign
rs37613321512:6,554,412T/C—likely benign
rs148419877312:6,554,416A/T—likely benign
rs253471912:6,554,429G/C—benign
rs249810674312:6,554,570C/G—likely benign
rs249810676412:6,554,573T/G—likely benign
rs77420725312:6,554,580C/G—likely benign
rs76750863012:6,554,582C/T—likely benign
rs194940044812:6,554,583C/T—likely benign
rs37060314112:6,554,585C/T—likely benign
rs194940073512:6,554,596T/A—uncertain significance
rs76022659112:6,554,600C/T—likely benign
rs76361726612:6,554,601G/A—uncertain significance
rs75330587512:6,554,608A/G—uncertain significance
rs39751466712:6,554,611G/Amissense variantpathogenic
rs20191635812:6,554,619C/T—uncertain significance
rs213696065112:6,554,627G/T—uncertain significance
rs2568012:6,554,628A/G—benign
rs121660593412:6,554,646T/G—uncertain significance
rs74864758512:6,554,653C/G—uncertain significance
rs75664485212:6,554,654G/A—likely benign
rs213696072112:6,554,655G/T—uncertain significance
rs77800106212:6,554,658G/T—uncertain significance
rs74926634612:6,554,659T/C—uncertain significance
rs86807007212:6,554,661T/C—uncertain significance
rs159211764012:6,554,663C/G—likely benign
rs249810824212:6,554,675C/T—likely benign
rs119917451312:6,554,676C/A—uncertain significance
rs74571327312:6,554,678C/T—likely benign
rs249810828412:6,554,679C/T—uncertain significance
rs194940286112:6,554,684C/A—likely benign
rs14543335612:6,554,686G/A—uncertain significance
rs249810851012:6,554,696T/C—likely benign
rs249810852512:6,554,699G/C—uncertain significance
rs140495571612:6,554,707G/A—uncertain significance
rs37740241312:6,554,714T/C—likely benign
rs213696083612:6,554,724G/A—uncertain significance
rs14084560312:6,555,213T/A—benign
rs18283990412:6,555,297C/Tintron variant—
rs77643077212:6,559,324C/A—likely benign
rs1183090212:6,559,330T/C—benign
rs144888651112:6,559,331T/G—likely benign
rs76916836712:6,559,332C/G—likely benign
rs118831657912:6,559,336C/T—uncertain significance
rs75316739312:6,559,346C/T—likely benign
rs76111323212:6,559,347G/A—uncertain significance
rs57061497212:6,559,350C/G—uncertain significance
rs36796873812:6,559,351G/A—uncertain significance
rs144544395012:6,559,366C/T—uncertain significance
rs130946783512:6,559,369C/T—uncertain significance
rs37176138712:6,559,389C/T—conflicting classifications of pathogenicity
rs37679018312:6,559,390G/A—uncertain significance
rs249813675912:6,559,399G/T—uncertain significance
rs37359863612:6,559,423C/A—uncertain significance
rs14905165312:6,559,424C/T—likely benign
rs131223224512:6,559,425G/C—uncertain significance
rs194950215812:6,559,429G/A—uncertain significance
rs249813726312:6,559,434C/A—uncertain significance
rs37380975912:6,559,441C/G—uncertain significance
rs18301761412:6,559,451G/A—likely benign
rs137865111612:6,559,456C/G—uncertain significance
rs19987611312:6,559,457C/T—likely benign
rs14303541512:6,559,458G/A—conflicting classifications of pathogenicity
rs15057854712:6,559,461C/T—uncertain significance
rs77698798512:6,559,462G/A—uncertain significance
rs76572598512:6,559,465C/T—uncertain significance
rs75054989212:6,559,466G/A—likely benign
rs97552236412:6,559,469T/G—likely benign
rs76665236312:6,559,475C/G—likely benign

Showing 100 of 179 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.