TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
Disease: HEMOCHROMATOSIS, TYPE 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338879
rs80338879
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C1858664
Disease:
HEMOCHROMATOSIS, TYPE 3 		0.810 GeneticVariation BEFREE Five TFR2 homozygous mutations have been documented in HFE3 patients: a nonsense mutation (Y250X); a C insertion that causes a frameshift and a premature stop codon (E60X); a missense mutation (M172K); a 12 basepair deletion in exon 16, that causes 4 aminoacid loss (AVAQ 594-597del) in the extracellular domain of TFR2; a missense mutation in exon 17 (Q690P). 12547237 2003
dbSNP: rs80338879
rs80338879
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C1858664
Disease:
HEMOCHROMATOSIS, TYPE 3 		0.810 GeneticVariation UNIPROT Identification of new mutations of the HFE, hepcidin, and transferrin receptor 2 genes by denaturing HPLC analysis of individuals with biochemical indications of iron overload. 14633868 2003
dbSNP: rs80338879
rs80338879
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C1858664
Disease:
HEMOCHROMATOSIS, TYPE 3 		0.810 GeneticVariation UNIPROT Transferrin receptor 2 (TfR2) and HFE mutational analysis in non-C282Y iron overload: identification of a novel TfR2 mutation. 12130528 2002
dbSNP: rs80338879
rs80338879
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C1858664
Disease:
HEMOCHROMATOSIS, TYPE 3 		0.810 GeneticVariation UNIPROT New mutations inactivating transferrin receptor 2 in hemochromatosis type 3. 11313241 2001
dbSNP: rs80338879
rs80338879
Entrez Id: 7036
Gene Symbol: TFR2
TFR2
CUI: C1858664
Disease:
HEMOCHROMATOSIS, TYPE 3 		T 0.810 CausalMutation CLINVAR