FOLR1

folate receptor alpha

Summary

The protein encoded by this gene is a member of the folate receptor family. Members of this gene family bind folic acid and its reduced derivatives, and transport 5-methyltetrahydrofolate into cells. This gene product is a secreted protein that either anchors to membranes via a glycosyl-phosphatidylinositol linkage or exists in a soluble form. Mutations in this gene have been associated with neurodegeneration due to cerebral folate transport deficiency. Due to the presence of two promoters, multiple transcription start sites, and alternative splicing, multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Oct 2009]

Known Variants225 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18994955911:71,900,584C/T—likely benign
rs88604864111:71,900,690C/G—uncertain significance
rs91933682811:71,900,782G/A—likely benign
rs194813279911:71,900,785G/A—uncertain significance
rs105752282711:71,900,812C/T—likely benign
rs207101011:71,900,964G/Aupstream gene variantuncertain significance
rs11778726411:71,901,128A/G—benign
rs154008711:71,901,491G/A—benign
rs928268811:71,901,578T/C—benign
rs710925011:71,901,670C/T—benign
rs712518911:71,901,845A/C—benign
rs37506083211:71,903,204C/T—conflicting classifications of pathogenicity
rs105752482911:71,903,218A/Gmissense variantpathogenic
rs126167433911:71,903,225A/G—uncertain significance
rs155506861411:71,903,226G/A—likely benign
rs11206251011:71,903,227C/T—uncertain significance
rs14538045311:71,903,228G/A—conflicting classifications of pathogenicity
rs37156536411:71,903,230A/G—conflicting classifications of pathogenicity
rs115947759711:71,903,234C/T—uncertain significance
rs127908127011:71,903,235A/G—likely benign
rs77085109411:71,903,239C/A—uncertain significance
rs253912574511:71,903,259G/A—likely benign
rs20026194311:71,903,262G/T—uncertain significance
rs253912577311:71,903,270T/C—uncertain significance
rs159124365911:71,903,271A/T—likely benign
rs76958975411:71,903,274A/G—conflicting classifications of pathogenicity
rs56612049711:71,903,276G/C—uncertain significance
rs156536392611:71,903,282C/T—uncertain significance
rs213538543211:71,903,285A/G—uncertain significance
rs103847625311:71,903,288C/T—uncertain significance
rs253912584611:71,903,296G/T—uncertain significance
rs76215822611:71,903,297C/G—uncertain significance
rs105752028511:71,903,298A/C—likely benign
rs130463586511:71,903,309C/T—uncertain significance
rs14921693911:71,903,320A/G—conflicting classifications of pathogenicity
rs99705230311:71,903,328C/T—likely benign
rs148385764711:71,903,329A/G—uncertain significance
rs37639220511:71,903,334C/T—likely benign
rs76692891711:71,903,335G/A—uncertain significance
rs194816700811:71,903,340G/C—uncertain significance
rs75441417711:71,903,341C/A—uncertain significance
rs75226245811:71,903,355G/A—likely benign
rs155506866211:71,903,356C/G—uncertain significance
rs253912608811:71,903,358A/G—likely benign
rs253912610311:71,903,361C/A—likely benign
rs75812109111:71,903,364C/T—likely benign
rs148846052011:71,903,365G/A—uncertain significance
rs213538556011:71,903,373G/C—uncertain significance
rs14341350011:71,903,374T/C—conflicting classifications of pathogenicity
rs213538556611:71,903,379T/C—likely benign
rs137069224711:71,903,380G/A—uncertain significance
rs14383523211:71,903,382G/A—likely benign
rs88604864211:71,903,388G/A—uncertain significance
rs155506867711:71,903,394G/A—likely benign
rs78104934711:71,903,395G/C—likely benign
rs131344336911:71,903,396G/A—likely benign
rs74585932511:71,903,398G/A—likely benign
rs7777190611:71,903,422G/T—likely benign
rs7740578111:71,903,431G/C—benign
rs3580577111:71,906,129C/G—benign
rs7470249711:71,906,221T/G—likely benign
rs1716205611:71,906,244T/C—benign
rs19998539711:71,906,296T/C—likely benign
rs75871943111:71,906,298T/C—likely benign
rs253913102211:71,906,302T/G—likely benign
rs159124586811:71,906,303T/C—likely benign
rs122118928011:71,906,307C/A—likely benign
rs129782214911:71,906,308C/G—likely benign
rs253913105711:71,906,310T/C—likely benign
rs93076478311:71,906,317T/C—likely benign
rs13857505111:71,906,319G/A—uncertain significance
rs127555154311:71,906,322C/A—uncertain significance
rs113169163711:71,906,336G/T—conflicting classifications of pathogenicity
rs105752300211:71,906,338C/T—likely benign
rs253913119311:71,906,344T/C—likely benign
rs14834568811:71,906,361A/G—conflicting classifications of pathogenicity
rs194821259811:71,906,368C/A—likely benign
rs194821264611:71,906,369C/T—uncertain significance
rs159124596511:71,906,370A/G—uncertain significance
rs141705372011:71,906,378G/A—uncertain significance
rs86717531011:71,906,383C/T—likely benign
rs95091702711:71,906,390T/C—uncertain significance
rs194821331911:71,906,393A/C—likely benign
rs140917680611:71,906,402T/G—uncertain significance
rs155506906911:71,906,403G/A—pathogenic
rs213538830811:71,906,404G/A—pathogenic
rs37544483911:71,906,407C/T—conflicting classifications of pathogenicity
rs100665912811:71,906,424C/T—uncertain significance
rs75971215711:71,906,427C/G—uncertain significance
rs76579699911:71,906,428T/C—likely benign
rs105751881611:71,906,433G/Amissense variantpathogenic
rs77586489511:71,906,437A/T—uncertain significance
rs7619165511:71,906,438C/T—likely benign
rs76442071411:71,906,439G/A—uncertain significance
rs148866478811:71,906,455C/T—likely benign
rs76698983111:71,906,457C/A—uncertain significance
rs74988521611:71,906,458C/G—likely benign
rs75562795711:71,906,460G/T—uncertain significance
rs138692647511:71,906,463T/C—uncertain significance
rs14567475911:71,906,467C/A—pathogenic

Showing 100 of 225 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.