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Results for the Protein: NP_653091
444299651

protein CASC5 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE
1
9
1
9
0
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RefSeq Protein: NP_653091
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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 ↕
dbSNPrs2412541 Polymorphismp.ALA460SERN/A
dbSNPrs8040502 Polymorphismp.ARG910GLYN/A
dbSNPrs7177192 Polymorphismp.ARG43THRN/A
dbSNPrs76371152 Polymorphismp.ILE243VALN/A
dbSNPrs76098847 Polymorphismp.LYS1644ARGN/A
dbSNPrs17747633 Polymorphismp.LYS1259GLUN/A
dbSNPrs11858113 Polymorphismp.MET572THRN/A
dbSNPrs16970911 Polymorphismp.THR1447ALAN/A
dbSNPrs12911738 Polymorphismp.THR87ALAN/A
OMIM609173.0001 Diseasep.MET2015ILEMICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE



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