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Results for the Protein: Q9BX63
57012613

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 ↕
DinGCOG11998.2e-36167887
DEXDc2smart004884.7e-4813437
smart004894.7e-4813437
DEAD_2pfam067332.9e-81248415
smart004922.3e-22698851
HELICc2smart004917e-44698851

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_023702Diseasep.ALA349PROFanconi anemia complementation group J (FANCJ)
Swiss-ProtVAR_020897Polymorphismp.ARG173CYSN/A
Swiss-ProtVAR_023704Diseasep.ARG707CYSFanconi anemia complementation group J (FANCJ)
Swiss-ProtVAR_023701Polymorphismp.ARG264TRPN/A
Swiss-ProtVAR_020901Polymorphismp.ARG419TRPN/A
Swiss-ProtVAR_052193Polymorphismp.ASP1148GLUN/A
Swiss-ProtVAR_020904Polymorphismp.CYS832TYRN/A
Swiss-ProtVAR_023700Diseasep.GLN255HISFanconi anemia complementation group J (FANCJ)
Swiss-ProtVAR_020903Polymorphismp.GLN540LEUN/A
Swiss-ProtVAR_052192Polymorphismp.ILE633METN/A
Swiss-ProtVAR_020899Polymorphismp.LEU195PRON/A
Swiss-ProtVAR_020900Diseasep.MET299ILEBreast cancer (BC)
Swiss-ProtVAR_020902Polymorphismp.PHE531VALN/A
Swiss-ProtVAR_020896Diseasep.PRO47ALABreast cancer (BC)
Swiss-ProtVAR_020907Polymorphismp.PRO1034LEUN/A
Swiss-ProtVAR_020905Polymorphismp.PRO919SERN/A
Swiss-ProtVAR_023703Diseasep.TRP647CYSFanconi anemia complementation group J (FANCJ)
Swiss-ProtVAR_020906Polymorphismp.VAL935GLYN/A
Swiss-ProtVAR_020898Polymorphismp.VAL193ILEN/A



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