Results for the protein: Q9BXW9

Results for the Protein: Q9BXW9

67461071

2177

FANCD2

NCBI, UniProt

FACD2_HUMAN RecName: Full=Fanconi anemia group D2 protein; Short=Protein FACD2

Known Diseases associated with this Protein:
FANCONI ANEMIA COMPLEMENTATION GROUP D2 (FANCD2)
FANCONI ANEMIA, COMPLEMENTATION GROUP D2

6

12

3

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10

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Default View:	Swiss-Prot Protein: Q9BXW9 Identical to: NP_149075 Default View:

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 ↕
Swiss-Prot	VAR_025832	Polymorphism	p.ARG328GLN	N/A
Swiss-Prot	VAR_022562	Disease	p.ARG1236HIS	Fanconi anemia complementation group D2 (FANCD2)
Swiss-Prot	VAR_022560	Disease	p.ARG302TRP	Fanconi anemia complementation group D2 (FANCD2)
Swiss-Prot	VAR_025829	Polymorphism	p.GLN65HIS	N/A
Swiss-Prot	VAR_025835	Polymorphism	p.GLN623PRO	N/A
dbSNP	rs35495399	Polymorphism	p.GLY901VAL	N/A
Swiss-Prot	VAR_025830	Polymorphism	p.ILE172MET	N/A
dbSNP	rs35782247	Polymorphism	p.LEU456ARG	N/A
dbSNP	rs34557223	Polymorphism	p.LEU446VAL	N/A
Swiss-Prot	VAR_025827	Polymorphism	p.LYS33ARG	N/A
dbSNP	rs35546777	Polymorphism	p.LYS865ARG	N/A
dbSNP	rs3864017	Polymorphism	p.PRO714LEU	N/A
Swiss-Prot	VAR_022559	Disease	p.SER126GLY	Fanconi anemia complementation group D2 (FANCD2)
Swiss-Prot	VAR_025831	Polymorphism	p.THR193ALA	N/A
Swiss-Prot	VAR_025828	Polymorphism	p.THR61MET	N/A
OMIM	613984.0001	Disease	p.ARG1236HIS	FANCONI ANEMIA, COMPLEMENTATION GROUP D2
OMIM	613984.0003	Disease	p.ARG302TRP	FANCONI ANEMIA, COMPLEMENTATION GROUP D2
OMIM	613984.0004	Disease	p.GLN320TER	FANCONI ANEMIA, COMPLEMENTATION GROUP D2

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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