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Results for the Protein: Q96SN8
296439505

CK5P2_HUMAN RecName: Full=CDK5 regulatory subunit-associated protein 2; AltName: Full=CDK5 activator-binding protein C48; AltName: Full=Centrosome-associated protein 215

Known Diseases associated with this Protein:
  MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE
4
7
4
5
2
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Default View:

Microtub_assoc - pfam07989


Swiss-Prot Protein: Q96SN8
Identical to: NP_060719
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Microtub_assocpfam079891.9e-3659133

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_056831Polymorphismp.ALA183PRON/A
dbSNPrs16909747 Polymorphismp.ARG1607SERN/A
dbSNPrs3780679 Polymorphismp.ARG1045THRN/A
Swiss-ProtVAR_059616Polymorphismp.ASN1330ILEN/A
dbSNPrs4836822 Polymorphismp.GLU289GLNN/A
dbSNPrs34523498 Polymorphismp.GLY1022GLUN/A
dbSNPrs4837768 Polymorphismp.VAL1540LEUN/A
OMIM608201.0005 Diseasep.ARG1558TERMICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE
OMIM608201.0004 Diseasep.GLU1516TERMICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE
OMIM608201.0003 Diseasep.GLU234TERMICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE
OMIM608201.0001 Diseasep.TYR82TERMICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE



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