NAF1

nuclear assembly factor 1 ribonucleoprotein

Summary

Enables identical protein binding activity and telomerase RNA binding activity. Involved in ribosome biogenesis; telomerase RNA stabilization; and telomerase holoenzyme complex assembly. Acts upstream of or within telomerase RNA localization to Cajal body. Located in cytoplasm and nucleoplasm. Part of sno(s)RNA-containing ribonucleoprotein complex. Implicated in melanoma. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants162 total

rsidPosition (GRCh37)AllelesClassClinVar
rs68119804:164,034,530A/Tintron variant—
rs46918954:164,048,199G/Cdownstream gene variant—
rs12035472694:164,048,225G/A—uncertain significance
rs14635554:164,049,448T/G——
rs2001144174:164,050,039G/A—uncertain significance
rs1430015034:164,050,056T/G—conflicting classifications of pathogenicity
rs17307515824:164,050,058A/G—likely benign
rs17307519554:164,050,072A/G—uncertain significance
rs7719627834:164,050,092G/A—uncertain significance
rs8894447244:164,050,098G/A—uncertain significance
rs7639098884:164,050,100A/G—likely benign
rs7499554134:164,050,115G/A—likely benign
rs13936823164:164,050,122G/A—uncertain significance
rs14404679334:164,050,132G/C—uncertain significance
rs7780427594:164,050,155G/C—conflicting classifications of pathogenicity
rs7710145194:164,050,159G/A—uncertain significance
rs11733889404:164,050,178A/T—likely benign
rs2005166164:164,050,186C/T—likely benign
rs10120736394:164,050,195C/T—uncertain significance
rs12787246714:164,050,199T/C—likely benign
rs7649159524:164,050,214G/C—likely benign
rs10332135544:164,050,220A/C—likely benign
rs11965130324:164,050,224C/T—uncertain significance
rs3741708034:164,050,225G/A—uncertain significance
rs7495591424:164,050,258G/A—uncertain significance
rs10484451724:164,050,272T/C—uncertain significance
rs1451621984:164,050,301A/T—likely benign
rs15607843774:164,050,332A/G—uncertain significance
rs24771487624:164,050,334A/C—uncertain significance
rs7532266364:164,050,347T/C—uncertain significance
rs7584389624:164,050,371C/T—uncertain significance
rs7800656904:164,050,383C/T—uncertain significance
rs7706754334:164,050,410C/T—uncertain significance
rs14149617164:164,050,411G/A—conflicting classifications of pathogenicity
rs1484280124:164,050,429G/A—uncertain significance
rs17307781754:164,050,430A/C—uncertain significance
rs1425845554:164,050,445C/T—likely benign
rs12526544334:164,050,461T/C—uncertain significance
rs5353090594:164,050,464G/C—uncertain significance
rs3676239374:164,050,483C/T—uncertain significance
rs13847114164:164,050,498C/T—uncertain significance
rs7665827884:164,054,288T/C—likely benign
rs21108945304:164,054,305C/A—likely pathogenic
rs3705189434:164,054,309G/A—uncertain significance
rs7571721594:164,054,314T/C—uncertain significance
rs21108948264:164,054,353G/T—uncertain significance
rs7465653684:164,054,371G/C—uncertain significance
rs1464745024:164,054,373T/G—conflicting classifications of pathogenicity
rs13957906164:164,058,351C/T—uncertain significance
rs21109171904:164,058,395C/T—uncertain significance
rs2017007294:164,058,409G/C—likely benign
rs7808936084:164,061,361G/A—likely benign
rs3715234804:164,061,364A/G—likely benign
rs3765754224:164,061,368T/C—conflicting classifications of pathogenicity
rs7498254324:164,061,396A/G—uncertain significance
rs2017167244:164,061,462C/T—uncertain significance
rs24772099624:164,061,469T/C—uncertain significance
rs5759104474:164,061,470G/T—uncertain significance
rs14467115184:164,061,489C/T—uncertain significance
rs7532855874:164,061,490G/A—uncertain significance
rs5612255004:164,061,503T/C—likely benign
rs12194788084:164,061,509T/C—likely benign
rs17312118904:164,061,518T/C—likely benign
rs7802450664:164,061,530G/A—likely benign
rs24772107654:164,061,537T/C—uncertain significance
rs1135800954:164,065,720A/Gintron variant—
rs7473681894:164,066,942C/A—uncertain significance
rs5740170564:164,066,946T/C—likely benign
rs7553207414:164,066,950C/G—likely risk allele
rs24772404254:164,066,960T/A—likely pathogenic
rs12562315354:164,066,995T/C—uncertain significance
rs13202773504:164,066,998G/C—uncertain significance
rs1467088494:164,067,007T/G—uncertain significance
rs17314445374:164,067,024A/G—likely benign
rs3719614254:164,067,030T/C—likely benign
rs11733872374:164,069,492C/A—likely risk allele
rs5627907614:164,069,510C/T—uncertain significance
rs7684577434:164,069,517C/T—uncertain significance
rs24772547914:164,069,526G/A—uncertain significance
rs14217013934:164,069,543T/A—uncertain significance
rs13862824994:164,069,548A/C—likely benign
rs24772549974:164,069,551C/T—likely benign
rs15539606224:164,069,553G/A—likely benign
rs1998042244:164,069,559T/C—uncertain significance
rs23206154:164,069,949A/C——
rs623350674:164,072,515T/Cintron variant—
rs7685258984:164,085,351A/G—likely benign
rs5629850374:164,085,377G/A—uncertain significance
rs7727197004:164,085,391G/A—uncertain significance
rs5319227984:164,085,396A/C—likely benign
rs24773424194:164,085,407T/C—uncertain significance
rs46918964:164,085,425T/C—benign
rs24773425844:164,085,427T/C—uncertain significance
rs7531705994:164,085,450C/G—likely benign
rs342833884:164,085,470T/C—benign
rs1452177184:164,085,483A/C—likely benign
rs2005887024:164,085,487G/A—conflicting classifications of pathogenicity
rs17323572634:164,085,504A/G—uncertain significance
rs9048856154:164,085,517G/A—uncertain significance
rs7591117604:164,085,521T/C—uncertain significance

Showing 100 of 162 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.