TF

transferrin

Summary

This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds one ion of ferric iron. The function of this protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. This protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter and allergens from serum. [provided by RefSeq, Sep 2009]

Known Variants381 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2718812	3:133,399,702	C/T	intron variant	—
rs1867504	3:133,410,661	A/G	coding sequence variant	—
rs551526838	3:133,447,812	G/A	—	—
rs9872999	3:133,457,514	C/G	—	—
rs8177178	3:133,463,272	G/T	—	—
rs8177179	3:133,463,457	G/A	upstream gene variant	—
rs4481157	3:133,464,684	G/A	upstream gene variant	—
rs540606355	3:133,465,168	G/A	—	uncertain significance
rs8177186	3:133,465,201	G/T	—	benign
rs41298275	3:133,465,220	G/C	—	likely benign
rs781336514	3:133,465,267	C/T	—	uncertain significance
rs1130459	3:133,465,283	A/G	regulatory region variant	benign
rs774658921	3:133,465,290	G/A	—	likely benign
rs746387440	3:133,465,293	C/T	—	likely benign
rs1190765289	3:133,465,296	C/T	—	likely benign
rs2530561687	3:133,465,308	G/T	—	likely benign
rs776185776	3:133,465,309	C/T	—	likely benign
rs1436458286	3:133,465,320	C/T	—	likely benign
rs368521553	3:133,465,335	C/A	—	conflicting classifications of pathogenicity
rs751413138	3:133,465,336	G/C	—	likely benign
rs562524022	3:133,465,342	G/C	—	likely benign
rs774172803	3:133,467,242	C/T	—	likely benign
rs2530569246	3:133,467,245	C/T	—	likely benign
rs759288006	3:133,467,250	C/T	—	likely benign
rs201126253	3:133,467,252	C/G	—	likely benign
rs2530569325	3:133,467,266	G/A	—	likely benign
rs756125441	3:133,467,272	C/T	—	conflicting classifications of pathogenicity
rs1164385554	3:133,467,275	T/C	—	likely benign
rs1347422067	3:133,467,280	A/T	—	uncertain significance
rs868292410	3:133,467,284	T/C	—	likely benign
rs1291195506	3:133,467,305	G/A	—	likely benign
rs1576354302	3:133,467,317	C/T	—	likely benign
rs2530569543	3:133,467,325	G/A	—	uncertain significance
rs146477698	3:133,467,331	G/A	—	conflicting classifications of pathogenicity
rs41298293	3:133,467,337	G/A	—	uncertain significance
rs770585501	3:133,467,338	C/T	—	likely benign
rs929317541	3:133,467,353	C/T	—	likely benign
rs144636315	3:133,467,354	G/A	—	uncertain significance
rs572420069	3:133,467,365	C/T	—	likely benign
rs41298295	3:133,467,366	G/A	—	uncertain significance
rs8177318	3:133,467,377	T/A	—	uncertain significance
rs2530569810	3:133,467,380	T/C	—	likely benign
rs765486421	3:133,467,389	G/A	—	likely benign
rs544064945	3:133,467,407	T/C	—	likely benign
rs142819812	3:133,467,427	C/T	—	uncertain significance
rs781774389	3:133,467,428	G/A	—	uncertain significance
rs374704350	3:133,467,435	C/T	—	likely benign
rs770403167	3:133,467,436	G/A	—	likely benign
rs2530569997	3:133,467,439	G/A	—	likely benign
rs114449208	3:133,467,442	G/C	—	benign
rs112668174	3:133,467,444	C/T	—	benign
rs771856843	3:133,467,446	A/G	—	benign
rs1390225056	3:133,467,447	A/G	—	likely benign
rs187267468	3:133,470,186	C/T	intron variant	—
rs1306622692	3:133,472,424	C/T	—	likely benign
rs1315455798	3:133,472,425	C/A	—	likely benign
rs372291687	3:133,472,426	T/C	—	likely benign
rs768455889	3:133,472,427	G/C	—	likely benign
rs375936361	3:133,472,430	C/T	—	likely benign
rs369728138	3:133,472,434	T/C	—	likely benign
rs200204609	3:133,472,444	C/T	—	likely benign
rs773144601	3:133,472,445	G/A	—	uncertain significance
rs41298977	3:133,472,449	C/T	—	likely benign
rs140381335	3:133,472,450	G/A	—	conflicting classifications of pathogenicity
rs121918681	3:133,472,451	G/A	missense variant	pathogenic
rs1933736844	3:133,472,462	A/G	—	likely benign
rs1197767898	3:133,472,465	G/A	—	likely benign
rs767996155	3:133,472,474	T/C	—	likely benign
rs753205471	3:133,472,480	G/A	—	likely benign
rs200551981	3:133,472,503	A/G	—	uncertain significance
rs2530582650	3:133,472,507	C/T	—	likely benign
rs906576819	3:133,472,522	G/A	—	likely benign
rs779627470	3:133,472,528	G/A	—	likely benign
rs746672239	3:133,472,533	A/G	—	uncertain significance
rs1335968870	3:133,472,540	A/G	—	likely benign
rs1933740786	3:133,472,555	C/T	—	likely benign
rs201778469	3:133,472,563	G/A	—	likely benign
rs2530583086	3:133,472,565	C/T	—	likely benign
rs2530586121	3:133,473,322	A/G	—	likely benign
rs2530586132	3:133,473,327	G/A	—	likely benign
rs2530586159	3:133,473,331	C/G	—	likely benign
rs150548621	3:133,473,346	G/A	—	likely benign
rs199624323	3:133,473,347	A/G	—	uncertain significance
rs1933769171	3:133,473,355	T/C	—	likely benign
rs969644204	3:133,473,367	T/C	—	likely benign
rs113868497	3:133,473,430	G/A	—	benign
rs777653288	3:133,473,439	C/A	—	likely benign
rs41298987	3:133,473,445	C/T	—	benign
rs779030217	3:133,473,446	G/A	—	uncertain significance
rs745934533	3:133,473,457	C/T	—	likely benign
rs371174384	3:133,473,498	G/A	—	uncertain significance
rs557564745	3:133,473,505	T/C	—	likely benign
rs75839677	3:133,473,525	C/A	—	likely benign
rs201033555	3:133,473,527	G/A	—	conflicting classifications of pathogenicity
rs2107914173	3:133,473,528	G/A	—	likely benign
rs1407670885	3:133,473,532	C/G	—	likely benign
rs1933795369	3:133,474,193	T/C	—	likely benign
rs755198689	3:133,474,195	T/C	—	likely benign
rs150679929	3:133,474,225	C/T	—	likely benign
rs373651632	3:133,474,244	T/C	—	likely benign

Showing 100 of 381 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.