Results for the protein: Q00597

Results for the Protein: Q00597

1706762

2176

FANCC

NCBI, UniProt

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

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9

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Default View:	Swiss-Prot Protein: Q00597 Identical to: NP_000127 Default View:

Domains found on the Protein

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

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_005228	Polymorphism	p.ASP195VAL	N/A
Swiss-Prot	VAR_005231	Polymorphism	p.GLN465ARG	N/A
Swiss-Prot	VAR_005226	Polymorphism	p.GLY139GLU	N/A
Swiss-Prot	VAR_016339	Polymorphism	p.ILE80THR	N/A
Swiss-Prot	VAR_005229	Polymorphism	p.ILE312VAL	N/A
Swiss-Prot	VAR_005232	Polymorphism	p.LEU496ARG	N/A
Swiss-Prot	VAR_005227	Polymorphism	p.LEU190PHE	N/A
Swiss-Prot	VAR_005233	Polymorphism	p.LEU554PRO	N/A
Swiss-Prot	VAR_005225	Polymorphism	p.SER26PHE	N/A
dbSNP	rs1800367	Polymorphism	p.VAL449MET	N/A
OMIM	613899.0002	Disease	p.ARG185TER	FANCONI ANEMIA, COMPLEMENTATION GROUP C
OMIM	613899.0005	Disease	p.ARG548TER	FANCONI ANEMIA, COMPLEMENTATION GROUP C
OMIM	613899.0004	Disease	p.GLN13TER	FANCONI ANEMIA, COMPLEMENTATION GROUP C
OMIM	613899.0008	Disease	p.LEU496ARG	FANCONI ANEMIA, COMPLEMEMENTATION GROUP C
OMIM	613899.0001	Disease	p.LEU554PRO	FANCONI ANEMIA, COMPLEMENTATION GROUP C

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