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Results for the Protein: Q00597
1706762

FANCC_HUMAN RecName: Full=Fanconi anemia group C protein; Short=Protein FACC

Known Diseases associated with this Protein:
  FANCONI ANEMIA, COMPLEMEMENTATION GROUP C
  FANCONI ANEMIA, COMPLEMENTATION GROUP C
5
10
5
1
9
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Swiss-Prot Protein: Q00597
Identical to: NP_000127
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_005228Polymorphismp.ASP195VALN/A
Swiss-ProtVAR_005231Polymorphismp.GLN465ARGN/A
Swiss-ProtVAR_005226Polymorphismp.GLY139GLUN/A
Swiss-ProtVAR_016339Polymorphismp.ILE80THRN/A
Swiss-ProtVAR_005229Polymorphismp.ILE312VALN/A
Swiss-ProtVAR_005232Polymorphismp.LEU496ARGN/A
Swiss-ProtVAR_005227Polymorphismp.LEU190PHEN/A
Swiss-ProtVAR_005233Polymorphismp.LEU554PRON/A
Swiss-ProtVAR_005225Polymorphismp.SER26PHEN/A
dbSNPrs1800367 Polymorphismp.VAL449METN/A
OMIM613899.0002 Diseasep.ARG185TERFANCONI ANEMIA, COMPLEMENTATION GROUP C
OMIM613899.0005 Diseasep.ARG548TERFANCONI ANEMIA, COMPLEMENTATION GROUP C
OMIM613899.0004 Diseasep.GLN13TERFANCONI ANEMIA, COMPLEMENTATION GROUP C
OMIM613899.0008 Diseasep.LEU496ARGFANCONI ANEMIA, COMPLEMEMENTATION GROUP C
OMIM613899.0001 Diseasep.LEU554PROFANCONI ANEMIA, COMPLEMENTATION GROUP C



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