Results for the protein: Q9BX63

Results for the Protein: Q9BX63

57012613

83990

BRIP1

NCBI, UniProt

FANCJ_HUMAN RecName: Full=Fanconi anemia group J protein; Short=Protein FACJ; AltName: Full=ATP-dependent RNA helicase BRIP1; AltName: Full=BRCA1-associated C-terminal helicase 1; AltName: Full=BRCA1-interacting protein C-terminal helicase 1; Short=BRCA1-interacting protein 1

Known Diseases associated with this Protein:
BREAST CANCER (BC)
FANCONI ANEMIA COMPLEMENTATION GROUP J (FANCJ)

6

13

0

0

19

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Default View: DEXDc2 - smart00488 - smart00489 DinG - COG1199 DEAD_2 - pfam06733 HELICc2 - smart00491 - smart00492	Swiss-Prot Protein: Q9BX63 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DEXDc2	smart00488	4.7e-48	13	437
	smart00489	4.7e-48	13	437
DEAD_2	pfam06733	2.9e-81	248	415
	smart00492	2.3e-22	698	851
HELICc2	smart00491	7e-44	698	851

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_023702	Disease	p.ALA349PRO	Fanconi anemia complementation group J (FANCJ)
Swiss-Prot	VAR_020897	Polymorphism	p.ARG173CYS	N/A
Swiss-Prot	VAR_023704	Disease	p.ARG707CYS	Fanconi anemia complementation group J (FANCJ)
Swiss-Prot	VAR_023701	Polymorphism	p.ARG264TRP	N/A
Swiss-Prot	VAR_020901	Polymorphism	p.ARG419TRP	N/A
Swiss-Prot	VAR_052193	Polymorphism	p.ASP1148GLU	N/A
Swiss-Prot	VAR_020904	Polymorphism	p.CYS832TYR	N/A
Swiss-Prot	VAR_023700	Disease	p.GLN255HIS	Fanconi anemia complementation group J (FANCJ)
Swiss-Prot	VAR_020903	Polymorphism	p.GLN540LEU	N/A
Swiss-Prot	VAR_052192	Polymorphism	p.ILE633MET	N/A
Swiss-Prot	VAR_020899	Polymorphism	p.LEU195PRO	N/A
Swiss-Prot	VAR_020900	Disease	p.MET299ILE	Breast cancer (BC)
Swiss-Prot	VAR_020902	Polymorphism	p.PHE531VAL	N/A
Swiss-Prot	VAR_020896	Disease	p.PRO47ALA	Breast cancer (BC)
Swiss-Prot	VAR_020907	Polymorphism	p.PRO1034LEU	N/A
Swiss-Prot	VAR_020905	Polymorphism	p.PRO919SER	N/A
Swiss-Prot	VAR_023703	Disease	p.TRP647CYS	Fanconi anemia complementation group J (FANCJ)
Swiss-Prot	VAR_020906	Polymorphism	p.VAL935GLY	N/A
Swiss-Prot	VAR_020898	Polymorphism	p.VAL193ILE	N/A

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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