TFR2

transferrin receptor 2

Summary

This gene encodes a single-pass type II membrane protein, which is a member of the transferrin receptor-like family. This protein mediates cellular uptake of transferrin-bound iron, and may be involved in iron metabolism, hepatocyte function and erythrocyte differentiation. Mutations in this gene have been associated with hereditary hemochromatosis type III. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2011]

Known Variants799 total

rsidPosition (GRCh37)AllelesClassClinVar
rs13731277327:100,218,045A/G—uncertain significance
rs13142330147:100,218,200T/G—uncertain significance
rs5607868347:100,218,260G/A—uncertain significance
rs7593799577:100,218,272G/A—uncertain significance
rs5780873397:100,218,338C/T—uncertain significance
rs7521156117:100,218,339G/A—uncertain significance
rs412966487:100,218,364G/A—likely benign
rs9861073767:100,218,425C/T—uncertain significance
rs7634634747:100,218,479C/T—uncertain significance
rs7666816767:100,218,486G/A—likely benign
rs24861019797:100,218,490T/C—uncertain significance
rs18030822937:100,218,492A/G—likely benign
rs412966457:100,218,497T/C—conflicting classifications of pathogenicity
rs7547230097:100,218,504G/A—likely benign
rs24861020317:100,218,507A/G—likely benign
rs7672437487:100,218,510C/T—likely benign
rs803388917:100,218,512C/Tmissense variantpathogenic
rs7523214247:100,218,513G/A—likely benign
rs3747667787:100,218,519C/T—conflicting classifications of pathogenicity
rs7491849537:100,218,531C/T—likely benign
rs7571802937:100,218,537C/T—likely benign
rs3677239877:100,218,540C/T—likely benign
rs24861021477:100,218,542T/C—uncertain significance
rs7689077307:100,218,543C/T—pathogenic
rs7482891307:100,218,546G/A—likely benign
rs24861021757:100,218,549G/C—likely benign
rs3721983267:100,218,550A/G—uncertain significance
rs24861021937:100,218,552C/T—likely benign
rs24861022027:100,218,554G/A—likely benign
rs21313039427:100,218,555G/A—likely benign
rs3755618587:100,218,559A/G—uncertain significance
rs1464874477:100,218,566G/A—uncertain significance
rs3694622897:100,218,568C/T—uncertain significance
rs21313039947:100,218,585G/A—likely benign
rs24861023327:100,218,594G/A—likely benign
rs3749156727:100,218,597G/A—likely benign
rs7788803407:100,218,603G/A—likely benign
rs11936114827:100,218,606C/T—likely benign
rs1446655947:100,218,608C/T—conflicting classifications of pathogenicity
rs7483769687:100,218,609G/A—likely benign
rs7777611177:100,218,612G/C—likely benign
rs13874106837:100,218,615C/T—likely benign
rs7749075527:100,218,617C/T—uncertain significance
rs7600619947:100,218,618G/A—likely benign
rs10304284097:100,218,627G/A—likely benign
rs9630872617:100,218,630G/C—likely benign
rs412959427:100,218,631C/T—likely benign
rs10284947907:100,218,632G/A—uncertain significance
rs12318833867:100,218,633C/T—likely benign
rs13523623657:100,218,636C/A—likely benign
rs18030912077:100,218,638G/C—uncertain significance
rs3693554077:100,218,640C/T—uncertain significance
rs9870411837:100,218,641G/T—likely benign
rs7604277497:100,218,644G/A—likely benign
rs7637824337:100,218,645G/A—likely benign
rs7613821197:100,218,648G/A—likely benign
rs5602238787:100,218,652A/C—uncertain significance
rs9888538627:100,218,653G/A—likely benign
rs13867449337:100,218,654C/G—likely benign
rs803388757:100,218,658G/A—not provided
rs10176096667:100,218,660G/A—likely benign
rs5279664287:100,218,663C/T—likely benign
rs9740224957:100,218,666C/T—likely benign
rs1508060777:100,218,667G/A—uncertain significance
rs24861026527:100,218,669G/A—likely benign
rs7563289737:100,218,679C/T—uncertain significance
rs24861026787:100,218,687G/A—likely benign
rs7493821747:100,218,690G/T—likely benign
rs18030952117:100,218,693G/A—likely benign
rs18030954607:100,218,696G/C—likely benign
rs9829998027:100,218,702C/G—likely benign
rs7726591587:100,218,703G/A—uncertain significance
rs14567391617:100,218,705G/C—likely benign
rs13978563417:100,218,708G/A—likely benign
rs7760476887:100,218,710C/T—uncertain significance
rs7473475187:100,218,711G/A—conflicting classifications of pathogenicity
rs1411403097:100,218,714T/C—conflicting classifications of pathogenicity
rs7763368947:100,218,717C/T—likely benign
rs13208499937:100,218,718G/T—likely pathogenic
rs12423579107:100,218,720C/T—likely benign
rs412959397:100,218,723G/A—likely benign
rs12497707717:100,218,738G/A—likely benign
rs803388907:100,218,750C/T—pathogenic
rs12557615377:100,218,753C/T—likely benign
rs3749647997:100,218,754G/A—likely benign
rs24861029107:100,218,756A/G—likely benign
rs24861029197:100,218,759G/A—likely benign
rs5714305747:100,218,761G/T—likely benign
rs24861029397:100,218,762G/A—likely benign
rs5324996407:100,218,763G/A—likely benign
rs11913981497:100,218,765G/T—likely benign
rs102479627:100,219,929G/T——
rs7459218697:100,224,366C/G—likely benign
rs11871852937:100,224,367G/A—likely benign
rs13974556407:100,224,371A/G—likely benign
rs15844553687:100,224,376G/A—likely benign
rs7590139957:100,224,377G/T—likely benign
rs24861146627:100,224,384A/T—likely pathogenic
rs7814274717:100,224,385C/T—pathogenic
rs2015562217:100,224,387C/T—conflicting classifications of pathogenicity

Showing 100 of 799 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.