Results for the protein: NP

Results for the Protein: NP_060663

82830440

55215

FANCI

NCBI

Fanconi anemia group I protein isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
FANCONI ANEMIA, COMPLEMENTATION GROUP I

2

6

2

6

0

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Default View:	RefSeq Protein: NP_060663 Default View:

Domains found on the Protein

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

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs17803620	Polymorphism	p.ALA86VAL	N/A
dbSNP	rs2283432	Polymorphism	p.CYS742SER	N/A
dbSNP	rs28378332	Polymorphism	p.GLN686LYS	N/A
dbSNP	rs62020347	Polymorphism	p.PRO55LEU	N/A
dbSNP	rs76788798	Polymorphism	p.VAL372ILE	N/A
dbSNP	rs113772230	Polymorphism	p.VAL290MET	N/A
OMIM	611360.0002	Disease	p.ARG1225GLN	FANCONI ANEMIA, COMPLEMENTATION GROUP I
OMIM	611360.0003	Disease	p.ARG1225TER	FANCONI ANEMIA, COMPLEMENTATION GROUP I

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