NOL3

nucleolar protein 3

Summary

This gene encodes an anti-apoptotic protein that has been shown to down-regulate the enzyme activities of caspase 2, caspase 8 and tumor protein p53. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jun 2010]

Known Variants31 total

rsidPosition (GRCh37)AllelesClassClinVar
rs203193963316:67,207,907C/T—uncertain significance
rs223345516:67,207,933C/T—benign
rs77678519816:67,208,051C/T—likely benign
rs123424635916:67,208,069G/T—likely benign
rs132636988016:67,208,102G/A—likely benign
rs39751460016:67,208,133G/Cmissense variantuncertain significance
rs250708049716:67,208,140T/C—uncertain significance
rs19998030616:67,208,147G/A—benign
rs76416112316:67,208,148G/T—likely benign
rs76616948816:67,208,167A/G—uncertain significance
rs119639081916:67,208,226C/A—uncertain significance
rs75266874516:67,208,254T/C—uncertain significance
rs98007729816:67,208,271G/A—uncertain significance
rs130439108316:67,208,299T/A—uncertain significance
rs76916821316:67,208,525C/A—uncertain significance
rs223345816:67,208,559G/A—likely benign
rs77363709416:67,208,561C/A—uncertain significance
rs20014467416:67,208,570G/C—conflicting classifications of pathogenicity
rs56823683116:67,208,578C/T—uncertain significance
rs75545524516:67,208,611C/A—uncertain significance
rs223345916:67,208,636C/G—likely benign
rs123827480716:67,208,681G/A—uncertain significance
rs143633881516:67,208,711C/T—uncertain significance
rs37534619216:67,208,755A/G—uncertain significance
rs250709711716:67,208,775C/T—uncertain significance
rs135540684916:67,208,783G/A—uncertain significance
rs75132821816:67,208,813C/T—uncertain significance
rs77775639316:67,208,837C/A—uncertain significance
rs18869611816:67,208,843C/T—likely benign
rs74578280816:67,208,979G/T—likely benign
rs223346016:67,209,007G/A—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.