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Results for the Protein: NP_001018125
66528888

Fanconi anemia group D2 protein isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  FANCONI ANEMIA, COMPLEMENTATION GROUP D2
3
5
3
5
0
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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 ↕
dbSNPrs35495399 Polymorphismp.GLY901VALN/A
dbSNPrs35782247 Polymorphismp.LEU456ARGN/A
dbSNPrs34557223 Polymorphismp.LEU446VALN/A
dbSNPrs35546777 Polymorphismp.LYS865ARGN/A
dbSNPrs3864017 Polymorphismp.PRO714LEUN/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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