Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q6ZVN8
51316254

RGMC_HUMAN RecName: Full=Hemojuvelin; AltName: Full=Hemochromatosis type 2 protein; AltName: Full=RGM domain family member C; Flags: Precursor

Known Diseases associated with this Protein:
  HEMOCHROMATOSIS 2A (HFE2A)
14
1
0
1
14
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

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



Default View:

RGM_N - pfam06535
RGM_C - pfam06534


Swiss-Prot Protein: Q6ZVN8
Identical to: NP_998818
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RGM_Cpfam065347.3e-123228426

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_019621Diseasep.ALA168ASPHemochromatosis 2A (HFE2A)
dbSNPrs7540883 Polymorphismp.ALA310GLYN/A
Swiss-ProtVAR_019628Diseasep.ARG288TRPHemochromatosis 2A (HFE2A)
Swiss-ProtVAR_019623Diseasep.ASP172GLUHemochromatosis 2A (HFE2A)
Swiss-ProtVAR_019617Diseasep.CYS80ARGHemochromatosis 2A (HFE2A)
Swiss-ProtVAR_019927Diseasep.CYS321TRPHemochromatosis 2A (HFE2A)
Swiss-ProtVAR_019619Diseasep.GLY99ARGHemochromatosis 2A (HFE2A)
Swiss-ProtVAR_019627Diseasep.GLY250VALHemochromatosis 2A (HFE2A)
Swiss-ProtVAR_019629Diseasep.GLY320VALHemochromatosis 2A (HFE2A)
Swiss-ProtVAR_019626Diseasep.ILE222ASNHemochromatosis 2A (HFE2A)
Swiss-ProtVAR_019620Diseasep.LEU101PROHemochromatosis 2A (HFE2A)
Swiss-ProtVAR_019622Diseasep.PHE170SERHemochromatosis 2A (HFE2A)
Swiss-ProtVAR_019625Diseasep.SER205ARGHemochromatosis 2A (HFE2A)
Swiss-ProtVAR_019618Diseasep.SER85PROHemochromatosis 2A (HFE2A)
Swiss-ProtVAR_019624Diseasep.TRP191CYSHemochromatosis 2A (HFE2A)



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258