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Results for the Protein: NP_001230672
344217746

Fanconi anemia group C protein isoform a [Homo sapiens]

Known Diseases associated with this Protein:
  FANCONI ANEMIA, COMPLEMEMENTATION GROUP C
  FANCONI ANEMIA, COMPLEMENTATION GROUP C
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Default View:

Fanconi_C - pfam02106




Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
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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