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Results for the Protein: Q8NG31
223590239

CASC5_HUMAN RecName: Full=Protein CASC5; AltName: Full=ALL1-fused gene from chromosome 15q14 protein; Short=AF15q14; AltName: Full=Bub-linking kinetochore protein; Short=Blinkin; AltName: Full=Cancer susceptibility candidate gene 5 protein; AltName: Full=Cancer/testis antigen 29; Short=CT29; AltName: Full=Kinetochore-null protein 1; AltName: Full=Protein D40/AF15q14

Known Diseases associated with this Protein:
  MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE (MCPH4)
1
11
0
0
12
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Swiss-Prot Protein: Q8NG31
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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_026431Polymorphismp.ALA486SERN/A
Swiss-ProtVAR_026432Polymorphismp.ARG936GLYN/A
Swiss-ProtVAR_026428Polymorphismp.ARG43THRN/A
Swiss-ProtVAR_061570Polymorphismp.CYS2338TYRN/A
Swiss-ProtVAR_061569Polymorphismp.LEU1190VALN/A
Swiss-ProtVAR_026433Polymorphismp.LYS1285GLUN/A
Swiss-ProtVAR_069085Diseasep.MET2041ILEMicrocephaly 4, primary, autosomal recessive (MCPH4)
Swiss-ProtVAR_054342Polymorphismp.MET598THRN/A
Swiss-ProtVAR_061568Polymorphismp.MET177VALN/A
Swiss-ProtVAR_026430Polymorphismp.THR113ALAN/A
Swiss-ProtVAR_026434Polymorphismp.THR1473ALAN/A
Swiss-ProtVAR_026429Polymorphismp.THR70ALAN/A



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