CUBN

cubilin

Summary

Cubilin (CUBN) acts as a receptor for intrinsic factor-vitamin B12 complexes. The role of receptor is supported by the presence of 27 CUB domains. Cubulin is located within the epithelium of intestine and kidney. Mutations in CUBN may play a role in autosomal recessive megaloblastic anemia. [provided by RefSeq, Jul 2008]

Known Variants1,619 total

rsidPosition (GRCh37)AllelesClassClinVar
rs56060926410:16,866,034T/C—uncertain significance
rs88604685110:16,866,091C/T—uncertain significance
rs11682564110:16,866,102A/G—benign
rs88604685210:16,866,180T/C—uncertain significance
rs88604685310:16,866,188A/G—uncertain significance
rs57047843210:16,866,192C/T—uncertain significance
rs11508039610:16,866,193G/A—benign
rs14961866010:16,866,205C/T—likely benign
rs11403930910:16,866,237A/G—benign
rs75168395810:16,866,240T/C—uncertain significance
rs99291715510:16,866,305G/A—uncertain significance
rs78063510:16,866,373C/T—benign
rs56982814410:16,866,377T/G—uncertain significance
rs18428422710:16,866,410C/G—uncertain significance
rs4556593110:16,866,414G/A—uncertain significance
rs88604685410:16,866,460A/C—uncertain significance
rs88604685510:16,866,504A/G—uncertain significance
rs158855971510:16,866,514G/T—uncertain significance
rs183871654010:16,866,521T/C—uncertain significance
rs131545891810:16,866,528T/C—uncertain significance
rs57451201910:16,866,538G/T—uncertain significance
rs18227826510:16,866,554G/A—likely benign
rs88604685610:16,866,558C/T—uncertain significance
rs18887397310:16,866,594A/G—likely benign
rs78029802210:16,866,601C/A—uncertain significance
rs18163091410:16,866,644C/G—likely benign
rs37672772010:16,866,645G/C—uncertain significance
rs14332634410:16,866,669A/C—benign
rs213129253510:16,866,670C/A—uncertain significance
rs52941583210:16,866,676C/T—uncertain significance
rs88604685710:16,866,677G/A—uncertain significance
rs88604685810:16,866,693T/C—uncertain significance
rs120323849810:16,866,707T/A—uncertain significance
rs37405972110:16,866,708G/A—likely benign
rs76904183010:16,866,771G/A—uncertain significance
rs88604685910:16,866,779A/G—uncertain significance
rs88604686010:16,866,797G/C—uncertain significance
rs55889167810:16,866,812C/T—uncertain significance
rs7674238410:16,866,823C/T—likely benign
rs78063610:16,866,840C/T—benign
rs11164476410:16,866,881G/T—likely benign
rs88604686110:16,866,893G/T—uncertain significance
rs708507610:16,866,929G/A—likely benign
rs75143452210:16,866,959C/T—uncertain significance
rs78083756110:16,866,993C/T—uncertain significance
rs75030368710:16,866,994G/A—affects
rs56442950510:16,867,000C/T—uncertain significance
rs14613799010:16,867,001G/A—likely benign
rs14862620210:16,867,008C/T—uncertain significance
rs14212032510:16,867,011C/T—conflicting classifications of pathogenicity
rs15113437710:16,867,012G/A—conflicting classifications of pathogenicity
rs118087597610:16,867,042C/T—uncertain significance
rs76316843610:16,867,048T/G—uncertain significance
rs117715638110:16,867,051A/G—uncertain significance
rs183873488110:16,867,069C/T—uncertain significance
rs75473125110:16,867,099A/T—likely benign
rs709687010:16,867,159A/G—likely benign
rs791897210:16,870,292T/C——
rs18650000910:16,870,522G/C—likely benign
rs14457766710:16,870,553C/T—likely benign
rs260380310:16,870,625G/A—benign
rs11278336410:16,870,675C/G—benign
rs4544289410:16,870,693A/C—likely benign
rs13891160910:16,870,761C/G—likely benign
rs11580333310:16,870,788T/C—likely benign
rs213129950310:16,870,793G/A—likely benign
rs37498222010:16,870,803C/T—uncertain significance
rs20148426610:16,870,809C/T—likely benign
rs75374868310:16,870,810G/A—likely benign
rs88604686210:16,870,816T/A—uncertain significance
rs213129955810:16,870,826G/A—uncertain significance
rs99576704610:16,870,830G/C—uncertain significance
rs75464531010:16,870,832G/A—uncertain significance
rs13905172410:16,870,839C/T—conflicting classifications of pathogenicity
rs36851147710:16,870,840G/C—uncertain significance
rs75788428210:16,870,841T/C—uncertain significance
rs146104218610:16,870,846C/T—likely benign
rs75663982210:16,870,858T/C—likely benign
rs78039493610:16,870,873G/C—likely benign
rs249111533410:16,870,888A/G—likely benign
rs76884655110:16,870,890C/T—uncertain significance
rs180123210:16,870,912G/Asynonymous variantlikely benign
rs14231405610:16,870,924A/T—likely benign
rs14590941310:16,870,927C/T—conflicting classifications of pathogenicity
rs75661474910:16,870,956C/A—pathogenic
rs37646110910:16,870,957G/T—likely pathogenic
rs77925801710:16,870,963C/T—likely benign
rs138828248110:16,870,977A/G—uncertain significance
rs249111607510:16,870,982C/G—uncertain significance
rs20033035610:16,870,992C/T—uncertain significance
rs14556935810:16,870,993G/A—conflicting classifications of pathogenicity
rs74994148910:16,871,021T/A—uncertain significance
rs141344467510:16,871,024A/G—uncertain significance
rs37600786410:16,871,038T/A—likely benign
rs183888519110:16,871,042G/A—uncertain significance
rs1125423210:16,871,321T/G—benign
rs299547610:16,871,358C/A—benign
rs1125423410:16,872,957A/G—benign
rs708846810:16,873,080T/C—benign
rs7478794610:16,873,174A/G—likely benign

Showing 100 of 1,619 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.