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Results for the Protein: Q9BXW9
67461071

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
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12
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Swiss-Prot Protein: Q9BXW9
Identical to: NP_149075
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_025832Polymorphismp.ARG328GLNN/A
Swiss-ProtVAR_022562Diseasep.ARG1236HISFanconi anemia complementation group D2 (FANCD2)
Swiss-ProtVAR_022560Diseasep.ARG302TRPFanconi anemia complementation group D2 (FANCD2)
Swiss-ProtVAR_025829Polymorphismp.GLN65HISN/A
Swiss-ProtVAR_025835Polymorphismp.GLN623PRON/A
dbSNPrs35495399 Polymorphismp.GLY901VALN/A
Swiss-ProtVAR_025830Polymorphismp.ILE172METN/A
dbSNPrs35782247 Polymorphismp.LEU456ARGN/A
dbSNPrs34557223 Polymorphismp.LEU446VALN/A
Swiss-ProtVAR_025827Polymorphismp.LYS33ARGN/A
dbSNPrs35546777 Polymorphismp.LYS865ARGN/A
dbSNPrs3864017 Polymorphismp.PRO714LEUN/A
Swiss-ProtVAR_022559Diseasep.SER126GLYFanconi anemia complementation group D2 (FANCD2)
Swiss-ProtVAR_025831Polymorphismp.THR193ALAN/A
Swiss-ProtVAR_025828Polymorphismp.THR61METN/A
OMIM613984.0001 Diseasep.ARG1236HISFANCONI ANEMIA, COMPLEMENTATION GROUP D2
OMIM613984.0003 Diseasep.ARG302TRPFANCONI ANEMIA, COMPLEMENTATION GROUP D2
OMIM613984.0004 Diseasep.GLN320TERFANCONI ANEMIA, COMPLEMENTATION GROUP D2



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