ARCN1

archain 1 coat protein complex I subunit delta

Summary

This gene maps in a region, which include the mixed lineage leukemia and Friend leukemia virus integration 1 genes, where multiple disease-associated chromosome translocations occur. It is an intracellular protein. Archain sequences are well conserved among eukaryotes and this protein may play a fundamental role in eukaryotic cell biology. It has similarities to heat shock proteins and clathrin-associated proteins, and may be involved in vesicle structure or trafficking. [provided by RefSeq, Jul 2008]

Known Variants203 total

rsidPosition (GRCh37)AllelesClassClinVar
rs119265454411:118,443,063G/C—benign
rs18830346811:118,443,273C/T—benign
rs249763375111:118,443,274C/A—likely benign
rs249763382611:118,443,281G/A—likely benign
rs13855741911:118,444,464A/Gupstream gene variant—
rs7302334111:118,445,585A/T——
rs11707572111:118,446,920G/Cupstream gene variant—
rs15031570811:118,448,023A/Gupstream gene variant—
rs18968555411:118,448,033C/Gupstream gene variant—
rs1121691111:118,451,901T/C—benign
rs155507451911:118,451,950G/A—likely benign
rs37476472711:118,451,953C/T—likely benign
rs13886336111:118,451,973G/T—benign
rs14286970511:118,451,978G/A—likely benign
rs249767470111:118,451,983G/A—uncertain significance
rs78223169911:118,452,003A/G—uncertain significance
rs131447979211:118,452,030A/G—uncertain significance
rs155507454511:118,452,033C/T—pathogenic
rs132976265711:118,452,040G/A—conflicting classifications of pathogenicity
rs155507456411:118,452,071G/A—likely benign
rs78279577711:118,452,093C/A—uncertain significance
rs193864592611:118,452,097C/T—uncertain significance
rs249767519811:118,452,112A/G—conflicting classifications of pathogenicity
rs53073403311:118,452,120A/C—benign
rs78256943811:118,452,125T/C—likely benign
rs37308834411:118,452,138A/G—likely benign
rs155507460611:118,452,152T/C—likely benign
rs213553957011:118,452,204C/T—likely benign
rs128978979511:118,452,212C/T—likely benign
rs88604085911:118,452,217C/Astop gainedpathogenic
rs78218964911:118,452,222G/C—uncertain significance
rs193864869411:118,452,230A/G—uncertain significance
rs37637874911:118,452,234C/T—likely benign
rs1121691211:118,452,334G/C—benign
rs1121691311:118,453,681A/G—benign
rs249768164711:118,453,886A/G—likely benign
rs55280659711:118,453,887C/T—benign
rs7873065811:118,453,888G/A—benign
rs249768168811:118,453,891T/C—benign
rs155507491511:118,453,905T/C—likely benign
rs37027610711:118,453,910G/A—conflicting classifications of pathogenicity
rs249768181011:118,453,925A/G—uncertain significance
rs78232721811:118,453,930A/G—uncertain significance
rs135516471311:118,453,938G/A—likely benign
rs131162437711:118,453,945T/C—uncertain significance
rs20058033811:118,453,977C/T—likely benign
rs14866620011:118,453,978G/A—uncertain significance
rs193870112011:118,453,991G/A—conflicting classifications of pathogenicity
rs249768227111:118,454,010A/G—likely benign
rs155507494211:118,454,013G/A—likely benign
rs193870204111:118,454,031A/G—likely benign
rs249768236111:118,454,032A/G—uncertain significance
rs249768239511:118,454,040T/G—likely benign
rs249768243411:118,454,047G/C—uncertain significance
rs249768248511:118,454,054T/G—uncertain significance
rs55697176711:118,454,064C/T—benign
rs37433374411:118,454,065G/A—uncertain significance
rs249768257511:118,454,066T/C—uncertain significance
rs249768258411:118,454,067C/T—likely benign
rs1784276311:118,454,177A/G—benign
rs155507501411:118,454,504A/G—likely benign
rs155507502111:118,454,534G/A—uncertain significance
rs37452865911:118,454,548G/C—likely benign
rs78252788611:118,454,554C/T—uncertain significance
rs78269032211:118,454,555G/A—uncertain significance
rs101852532111:118,454,584C/T—pathogenic
rs155507503411:118,454,594C/G—uncertain significance
rs14208799711:118,454,614G/A—likely benign
rs193871636811:118,454,617C/A—uncertain significance
rs133904678511:118,454,619A/C—likely benign
rs15118168011:118,454,628C/T—likely benign
rs78237333611:118,454,629G/T—pathogenic
rs132902072411:118,454,669C/A—uncertain significance
rs78206878211:118,454,671A/G—likely benign
rs155507507111:118,454,673G/T—uncertain significance
rs97809965711:118,454,681A/C—uncertain significance
rs249768540711:118,454,685C/T—likely benign
rs78248981411:118,454,689A/C—uncertain significance
rs213554297311:118,454,720C/T—uncertain significance
rs249768566211:118,454,722C/T—uncertain significance
rs249768567711:118,454,725G/C—uncertain significance
rs36783087111:118,454,733T/C—uncertain significance
rs78265125811:118,454,742G/A—likely benign
rs78226327011:118,454,745C/G—likely benign
rs159138524011:118,455,180A/G—pathogenic
rs78206190411:118,455,187C/T—likely benign
rs135538367311:118,455,188C/G—likely benign
rs249768768811:118,455,207C/T—likely benign
rs249768776811:118,455,223C/T—uncertain significance
rs132847301811:118,455,228A/T—likely benign
rs75552650911:118,455,232A/C—uncertain significance
rs78184050311:118,455,291G/A—uncertain significance
rs14693981211:118,455,293C/T—likely benign
rs78259367611:118,455,294C/T—likely benign
rs249768819411:118,455,300T/G—likely benign
rs78228095311:118,455,302T/C—conflicting classifications of pathogenicity
rs78241742611:118,455,308A/G—benign
rs19984956311:118,455,310C/A—likely benign
rs14795067011:118,455,311G/A—likely benign
rs14183013411:118,455,327C/G—likely benign

Showing 100 of 203 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.