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Results for the Protein: NP_114432
301897118

Fanconi anemia group J protein [Homo sapiens]

Known Diseases associated with this Protein:
  BREAST CANCER, EARLY-ONSET
  FANCONI ANEMIA, COMPLEMENTATION GROUP J
4
3
4
3
0
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Default View:

DEXDc2 - smart00488
- smart00489
DinG - COG1199
DEAD_2 - pfam06733
- smart00492
HELICc2 - smart00491


RefSeq Protein: NP_114432
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DEXDc2smart004884.7e-4813437
smart004894.7e-4813437
DEAD_2pfam067332.9e-81248415
HELICc2smart004917e-44698851
smart004922.3e-22698851

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs116952709 Polymorphismp.ALA144THRN/A
dbSNPrs4988350 Polymorphismp.PHE531VALN/A
dbSNPrs4986764 Polymorphismp.SER919PRON/A
OMIM605882.0004 Diseasep.ALA349PROFANCONI ANEMIA, COMPLEMENTATION GROUP J
OMIM605882.0003 Diseasep.ARG798TERFANCONI ANEMIA, COMPLEMENTATION GROUP J
OMIM605882.0002 Diseasep.MET299ILEBREAST CANCER, EARLY-ONSET
OMIM605882.0001 Diseasep.PRO47ALABREAST CANCER, EARLY-ONSET



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