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Results for the Protein: NP_001258968
440309853

CDK5 regulatory subunit-associated protein 2 isoform c [Homo sapiens]

Known Diseases associated with this Protein:
  MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE
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Default View:

Microtub_assoc - pfam07989




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM608201.0005 Diseasep.ARG1328TERMICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE
OMIM608201.0004 Diseasep.GLU1286TERMICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE
OMIM608201.0003 Diseasep.GLU234TERMICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE
OMIM608201.0001 Diseasep.TYR82TERMICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE



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