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Results for the Protein: Q9NVI1
212276518

FANCI_HUMAN RecName: Full=Fanconi anemia group I protein; Short=Protein FACI

Known Diseases associated with this Protein:
  FANCONI ANEMIA, COMPLEMENTATION GROUP I
2
9
2
7
2
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Swiss-Prot Protein: Q9NVI1
Identical to: NP_001106849
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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 ↕
dbSNPrs17803620 Polymorphismp.ALA86VALN/A
Swiss-ProtVAR_032692Polymorphismp.ARG1285GLNN/A
dbSNPrs2283432 Polymorphismp.CYS742SERN/A
dbSNPrs28378332 Polymorphismp.GLN686LYSN/A
Swiss-ProtVAR_032691Polymorphismp.HIS858TYRN/A
dbSNPrs35875311 Polymorphismp.ILE877LEUN/A
dbSNPrs62020347 Polymorphismp.PRO55LEUN/A
dbSNPrs76788798 Polymorphismp.VAL372ILEN/A
dbSNPrs113772230 Polymorphismp.VAL290METN/A
OMIM611360.0002 Diseasep.ARG1285GLNFANCONI ANEMIA, COMPLEMENTATION GROUP I
OMIM611360.0003 Diseasep.ARG1285TERFANCONI ANEMIA, COMPLEMENTATION GROUP I



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