NCR3

natural cytotoxicity triggering receptor 3

Summary

The protein encoded by this gene is a natural cytotoxicity receptor (NCR) that may aid NK cells in the lysis of tumor cells. The encoded protein interacts with CD3-zeta (CD247), a T-cell receptor. A single nucleotide polymorphism in the 5' untranslated region of this gene has been associated with mild malaria suceptibility. Three transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, May 2010]

Known Variants28 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3723929406:31,556,845C/T—likely benign
rs13331696436:31,556,897G/T—uncertain significance
rs3709359646:31,556,905G/A—uncertain significance
rs13822174906:31,557,344A/G—uncertain significance
rs2005707436:31,557,357C/T—uncertain significance
rs13351563386:31,557,371C/T—uncertain significance
rs1497939486:31,557,393C/T—likely benign
rs7627273796:31,557,577G/A—likely benign
rs7568862016:31,557,595C/T—likely benign
rs1999671056:31,557,628C/T—uncertain significance
rs5575715036:31,557,720C/T—likely benign
rs11786477446:31,557,750A/T—uncertain significance
rs13901702546:31,557,751C/A—likely benign
rs5732539876:31,557,754C/T—likely benign
rs115758396:31,557,791G/Asynonymous variant—
rs25333994756:31,557,834G/A—uncertain significance
rs7600670716:31,557,864C/G—likely benign
rs15830911676:31,557,872A/C—likely benign
rs1426759866:31,557,891A/C—likely benign
rs5337116316:31,557,911C/T—likely benign
rs31300636:31,558,702C/G——
rs1119954036:31,560,486G/A—likely benign
rs115758376:31,560,670C/T—pathogenic
rs27361916:31,560,910C/Gregulatory region variantpathogenic
rs287321466:31,561,353T/Aupstream gene variant—
rs93571356:31,561,515C/Tupstream gene variant—
rs5363789296:31,562,165T/C——
rs31306326:31,562,764C/Tupstream gene variant—

Gene information from NCBI Gene. Variant classifications from ClinVar.