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Results for the Protein: Q9HB96
45476978

FANCE_HUMAN RecName: Full=Fanconi anemia group E protein; Short=Protein FACE

Known Diseases associated with this Protein:
  FANCONI ANEMIA, COMPLEMENTATION GROUP E
2
6
2
2
4
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Default View:

FA_FANCE - pfam11510
FANCE_c-term - cd07439


Swiss-Prot Protein: Q9HB96
Identical to: NP_068741
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FANCE_c-termcd074393.6e-118278533
FA_FANCEpfam115101.3e-206273535

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs9462088 Polymorphismp.ALA502THRN/A
Swiss-ProtVAR_023375Polymorphismp.ARG343GLNN/A
Swiss-ProtVAR_023372Polymorphismp.ARG89LEUN/A
Swiss-ProtVAR_023374Polymorphismp.GLY340ARGN/A
Swiss-ProtVAR_038022Polymorphismp.PRO184GLNN/A
dbSNPrs7761870 Polymorphismp.SER204LEUN/A
OMIM613976.0002 Diseasep.ARG141TERFANCONI ANEMIA, COMPLEMENTATION GROUP E
OMIM613976.0001 Diseasep.GLN119TERFANCONI ANEMIA, COMPLEMENTATION GROUP E



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