TTPA

alpha tocopherol transfer protein

Summary

This gene encodes a soluble protein that binds alpha-trocopherol, a form of vitamin E, with high selectivity and affinity. This protein plays an important role in regulating vitamin E levels in the body by transporting vitamin E between membrane vesicles and facilitating the secretion of vitamin E from hepatocytes to circulating lipoproteins. Mutations in this gene cause hereditary vitamin E deficiency (ataxia with vitamin E deficiency, AVED) and retinitis pigmentosa. [provided by RefSeq, Nov 2009]

Known Variants343 total

rsidPosition (GRCh37)AllelesClassClinVar
rs10295986368:63,972,095A/G—uncertain significance
rs8860630598:63,972,213G/A—uncertain significance
rs64720688:63,972,324C/T—benign
rs5353107258:63,972,325G/A—uncertain significance
rs5533178368:63,972,370G/C—uncertain significance
rs5776490578:63,972,387G/A—uncertain significance
rs9134239288:63,972,389A/C—uncertain significance
rs18052733938:63,972,404C/T—uncertain significance
rs566759118:63,972,407C/T—benign
rs8860630608:63,972,417T/C—uncertain significance
rs5538531978:63,972,443G/C—uncertain significance
rs1813484778:63,972,446T/G—uncertain significance
rs12772450388:63,972,564T/C—uncertain significance
rs8860630618:63,972,647T/A—uncertain significance
rs8860630628:63,972,676A/G—uncertain significance
rs45873288:63,972,718C/T—benign
rs7766834938:63,972,877G/A—uncertain significance
rs5479758058:63,972,879C/T—likely benign
rs9754574158:63,972,994C/T—uncertain significance
rs7523521188:63,973,005G/A—uncertain significance
rs1142785768:63,973,029G/A—benign
rs8860630638:63,973,035G/A—uncertain significance
rs7754617698:63,973,042C/T—uncertain significance
rs8860630648:63,973,076A/G—uncertain significance
rs7606698548:63,973,216G/C—uncertain significance
rs8860630658:63,973,233A/G—uncertain significance
rs5765952748:63,973,257G/A—uncertain significance
rs5655830758:63,973,315A/C—uncertain significance
rs8860630668:63,973,359A/G—uncertain significance
rs5593454638:63,973,447T/A—uncertain significance
rs5296341198:63,973,485A/T—uncertain significance
rs8860630678:63,973,519T/C—uncertain significance
rs8860630688:63,973,525G/C—uncertain significance
rs18052967528:63,973,546A/G—uncertain significance
rs7615544828:63,973,572G/A—uncertain significance
rs1838851518:63,973,650T/C—uncertain significance
rs24871344958:63,973,811T/C—uncertain significance
rs7714128608:63,973,814T/C—likely benign
rs24871345498:63,973,820G/A—likely benign
rs12335150698:63,973,833C/A—uncertain significance
rs5550704918:63,973,834T/G—uncertain significance
rs21297341488:63,973,838G/C—likely benign
rs21297341578:63,973,839A/G—uncertain significance
rs15546052768:63,973,841A/T—uncertain significance
rs21297342158:63,973,850A/G—likely benign
rs12183513118:63,973,853C/A—uncertain significance
rs10546822498:63,973,854T/G—uncertain significance
rs12515589778:63,973,861T/C—uncertain significance
rs18053022318:63,973,864A/G—uncertain significance
rs12247929918:63,973,874T/C—likely benign
rs3746069078:63,973,888C/A—uncertain significance
rs7528107188:63,973,892C/T—uncertain significance
rs7970460708:63,973,893A/G—uncertain significance
rs7563136788:63,973,896G/A—uncertain significance
rs18053028828:63,973,898G/T—uncertain significance
rs10416515348:63,973,903C/T—uncertain significance
rs24871349418:63,973,904T/C—likely benign
rs5376478198:63,973,910A/G—likely benign
rs3975155268:63,973,912C/Gmissense variantuncertain significance
rs14009716738:63,973,913A/G—likely benign
rs7713628888:63,973,918C/T—uncertain significance
rs18053034198:63,973,921G/A—likely benign
rs24871350878:63,973,925A/G—likely benign
rs21297345108:63,973,931G/A—likely benign
rs7717384598:63,973,937G/A—likely benign
rs24871352038:63,973,949C/T—likely benign
rs7601446238:63,973,958T/C—likely benign
rs18053039838:63,973,962T/C—uncertain significance
rs24871352758:63,973,966T/C—uncertain significance
rs7681879898:63,973,970C/T—likely benign
rs7765051218:63,973,971C/T—uncertain significance
rs18053042928:63,973,973A/G—likely benign
rs12147775508:63,973,979G/A—likely benign
rs20452248:63,973,988A/C—benign
rs24871353928:63,973,992A/G—likely benign
rs24871353978:63,973,993G/A—likely benign
rs24871354018:63,973,994C/A—likely benign
rs12527376658:63,974,000C/T—likely benign
rs7627164118:63,974,002C/T—likely benign
rs3701914298:63,974,003T/C—uncertain significance
rs347660238:63,974,017G/A—benign
rs352502818:63,974,047C/A—likely benign
rs47376268:63,974,218A/G—benign
rs754200138:63,975,886T/Gintron variant—
rs351627938:63,976,612C/T—likely benign
rs46060528:63,976,677C/T—benign
rs24871428048:63,976,746T/A—likely benign
rs24871428218:63,976,751T/G—likely benign
rs45015708:63,976,754A/G—benign
rs3749030208:63,976,755T/C—conflicting classifications of pathogenicity
rs12549344788:63,976,764C/T—pathogenic
rs359168408:63,976,767G/Amissense variantpathogenic
rs7661084978:63,976,768T/C—likely benign
rs24871429178:63,976,771C/T—likely benign
rs21297413098:63,976,778T/A—uncertain significance
rs24871429878:63,976,784G/T—uncertain significance
rs11672704008:63,976,788G/A—likely benign
rs24871430248:63,976,789G/A—likely benign
rs1411636458:63,976,793G/T—uncertain significance
rs21297414438:63,976,802A/G—uncertain significance

Showing 100 of 343 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.