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Results for the Protein: Q9UP52
20140912

TFR2_HUMAN RecName: Full=Transferrin receptor protein 2; Short=TfR2

Known Diseases associated with this Protein:
  HEMOCHROMATOSIS 3 (HFE3)
  HEMOCHROMATOSIS, TYPE 1, MODIFIER OF
  HEMOCHROMATOSIS, TYPE 3
7
4
4
1
6
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

PA_GCPII_like - cd02121
PA_TfR - cd02128
PA - cd00538
Iap - COG2234
PA_hNAALADL2_like - cd02131
PA - pfam02225
Peptidase_M28 - pfam04389
TFR_dimer - pfam04253


Swiss-Prot Protein: Q9UP52
Identical to: NP_003218
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
PA_GCPII_likecd021214.1e-31203403
PA_TfRcd021282.4e-137211401
PAcd005387.6e-14212401
PA_hNAALADL2_likecd021317.9e-05228382
IapCOG22340.00093223669
PApfam022254.7e-11236331
Peptidase_M28pfam043898.7e-08425612
TFR_dimerpfam042531.8e-45668793

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_042516Polymorphismp.ARG455GLNN/A
Swiss-ProtVAR_034124Polymorphismp.ARG752HISN/A
Swiss-ProtVAR_034122Polymorphismp.ASP230GLUN/A
Swiss-ProtVAR_042517Diseasep.GLN690PROHemochromatosis 3 (HFE3)
dbSNPrs34242818 Polymorphismp.ILE238METN/A
Swiss-ProtVAR_012738Diseasep.MET172LYSHemochromatosis 3 (HFE3)
Swiss-ProtVAR_042515Diseasep.VAL22ILEHemochromatosis 3 (HFE3)
OMIM604720.0004 Diseasep.ARG455GLNHEMOCHROMATOSIS, TYPE 1, MODIFIER OF
OMIM604720.0005 Diseasep.GLN690PROHEMOCHROMATOSIS, TYPE 3
OMIM604720.0003 Diseasep.MET172LYSHEMOCHROMATOSIS, TYPE 3
OMIM604720.0001 Diseasep.TYR250TERHEMOCHROMATOSIS, TYPE 3



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