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Results for the Protein: Q6P5W5
296452970

S39A4_HUMAN RecName: Full=Zinc transporter ZIP4; AltName: Full=Solute carrier family 39 member 4; AltName: Full=Zrt- and Irt-like protein 4; Short=ZIP-4; Flags: Precursor

Known Diseases associated with this Protein:
  ACRODERMATITIS ENTEROPATHICA
  ACRODERMATITIS ENTEROPATHICA, ZINC-DEFICIENCY TYPE (AEZ)
16
13
7
7
15
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Default View:

COG0428 - COG0428
Zip - pfam02535


Swiss-Prot Protein: Q6P5W5
Identical to: NP_570901
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG0428COG04283.6e-15321637
Zippfam025352.3e-56324639

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_060487Polymorphismp.ALA22GLUN/A
dbSNPrs17855765 Polymorphismp.ALA114THRN/A
dbSNPrs2280838 Polymorphismp.ALA58THRN/A
Swiss-ProtVAR_023629Diseasep.ARG95CYSAcrodermatitis enteropathica, zinc-deficiency type (AEZ)
dbSNPrs2977838 Polymorphismp.ARG251TRPN/A
Swiss-ProtVAR_023630Diseasep.ASN106LYSAcrodermatitis enteropathica, zinc-deficiency type (AEZ)
Swiss-ProtVAR_023635Polymorphismp.CYS309TYRN/A
Swiss-ProtVAR_023634Diseasep.GLN303HISAcrodermatitis enteropathica, zinc-deficiency type (AEZ)
dbSNPrs7823979 Polymorphismp.GLU284LYSN/A
Swiss-ProtVAR_023639Diseasep.GLY374ARGAcrodermatitis enteropathica, zinc-deficiency type (AEZ)
Swiss-ProtVAR_023641Diseasep.GLY526ARGAcrodermatitis enteropathica, zinc-deficiency type (AEZ)
Swiss-ProtVAR_023642Diseasep.GLY630ARGAcrodermatitis enteropathica, zinc-deficiency type (AEZ)
Swiss-ProtVAR_023636Diseasep.GLY330ASPAcrodermatitis enteropathica, zinc-deficiency type (AEZ)
Swiss-ProtVAR_023638Diseasep.LEU372PROAcrodermatitis enteropathica, zinc-deficiency type (AEZ)
Swiss-ProtVAR_023640Polymorphismp.LEU410PRON/A
dbSNPrs1871534 Polymorphismp.LEU372VALN/A
Swiss-ProtVAR_060488Polymorphismp.LEU378VALN/A
Swiss-ProtVAR_023632Diseasep.PRO200LEUAcrodermatitis enteropathica, zinc-deficiency type (AEZ)
Swiss-ProtVAR_023628Polymorphismp.PRO84LEUN/A
dbSNPrs2272662 Polymorphismp.THR357ALAN/A
dbSNPrs75920625 Polymorphismp.THR381ALAN/A
Swiss-ProtVAR_057481Polymorphismp.THR158METN/A
OMIM607059.0011 Diseasep.ARG95CYSACRODERMATITIS ENTEROPATHICA
OMIM607059.0007 Diseasep.ASN106LYSACRODERMATITIS ENTEROPATHICA
OMIM607059.0012 Diseasep.GLN303HISACRODERMATITIS ENTEROPATHICA
OMIM607059.0006 Diseasep.GLY374ARGACRODERMATITIS ENTEROPATHICA
OMIM607059.0005 Diseasep.GLY526ARGACRODERMATITIS ENTEROPATHICA
OMIM607059.0009 Diseasep.GLY330ASPACRODERMATITIS ENTEROPATHICA
OMIM607059.0004 Diseasep.PRO200LEUACRODERMATITIS ENTEROPATHICA



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