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Results for the Protein: Q8IYD8
78099254

FANCM_HUMAN RecName: Full=Fanconi anemia group M protein; Short=Protein FACM; AltName: Full=ATP-dependent RNA helicase FANCM; AltName: Full=Fanconi anemia-associated polypeptide of 250 kDa; Short=FAAP250; AltName: Full=Protein Hef ortholog

Known Diseases associated with this Protein:
  FANCONI ANEMIA, COMPLEMENTATION GROUP M
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6
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5
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Default View:

SSL2 - COG1061
MPH1 - COG1111
DEXDc - smart00487
ResIII - pfam04851
DEAD - pfam00270
DEXDc - cd00046
HELICc - cd00079
HELICc - smart00490
Helicase_C - pfam00271
MUS81 - COG1948
ERCC4 - pfam02732


Swiss-Prot Protein: Q8IYD8
Identical to: NP_065988
   Default View:








Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SSL2COG10616.2e-0562528
MPH1COG11119.2e-14376653
DEXDccd000462.3e-19105248
HELICccd000793.7e-24439589
MUS81COG19481.9e-0917802046
ResIIIpfam048518.1e-1488250
DEADpfam002702.1e-1392255
Helicase_Cpfam002712.1e-20504581
ERCC4pfam027328.4e-0818191902
DEXDcsmart004878.1e-2583287
HELICcsmart004901.1e-20490581

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs61748921 Polymorphismp.ASN947THRN/A
Swiss-ProtVAR_061827Polymorphismp.ILE208METN/A
dbSNPrs78211950 Polymorphismp.ILE1460VALN/A
dbSNPrs3736772 Polymorphismp.PRO1812ALAN/A
dbSNPrs10138997 Polymorphismp.SER175PHEN/A
dbSNPrs1367580 Polymorphismp.VAL878LEUN/A
OMIM609644.0001 Diseasep.SER724TERFANCONI ANEMIA, COMPLEMENTATION GROUP M



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