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Results for the Protein: Q9Y698
6685289

CCG2_HUMAN RecName: Full=Voltage-dependent calcium channel gamma-2 subunit; AltName: Full=Neuronal voltage-gated calcium channel gamma-2 subunit; AltName: Full=Transmembrane AMPAR regulatory protein gamma-2; Short=TARP gamma-2

Known Diseases associated with this Protein:
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 10
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 10 (MRD10)
2
2
1
2
1
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PMP22_Claudin - pfam00822


Swiss-Prot Protein: Q9Y698
Identical to: NP_006069
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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 ↕
dbSNPrs111933816 Polymorphismp.ASP168ALAN/A
dbSNPrs113927105 Polymorphismp.SER165PHEN/A
Swiss-ProtVAR_066599Diseasep.VAL143LEUMental retardation, autosomal dominant 10 (MRD10)
OMIM602911.0001 Diseasep.VAL143LEUMENTAL RETARDATION, AUTOSOMAL DOMINANT 10



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