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Results for the Protein: O95613
313104312

PCNT_HUMAN RecName: Full=Pericentrin; AltName: Full=Kendrin; AltName: Full=Pericentrin-B

Known Diseases associated with this Protein:
  MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
6
34
6
30
4
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PACT_coil_coil - pfam10495


Swiss-Prot Protein: O95613
Identical to: NP_006022
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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 ↕
dbSNPrs35044802 Polymorphismp.ALA1194THRN/A
dbSNPrs2839256 Polymorphismp.ALA2549THRN/A
dbSNPrs35147998 Polymorphismp.ALA2903THRN/A
dbSNPrs7279204 Polymorphismp.ARG1163CYSN/A
dbSNPrs34813667 Polymorphismp.ARG1960GLNN/A
Swiss-ProtVAR_069421Polymorphismp.ARG2424GLNN/A
dbSNPrs8131693 Polymorphismp.ARG2625GLNN/A
dbSNPrs34268261 Polymorphismp.ARG1953HISN/A
dbSNPrs743346 Polymorphismp.ARG2753HISN/A
dbSNPrs2073380 Polymorphismp.ARG3245SERN/A
dbSNPrs35940413 Polymorphismp.ASN1841SERN/A
dbSNPrs7277175 Polymorphismp.GLN2361ARGN/A
dbSNPrs2073376 Polymorphismp.GLN2792ARGN/A
dbSNPrs2070426 Polymorphismp.GLN2659HISN/A
Swiss-ProtVAR_069420Polymorphismp.GLY1452ARGN/A
dbSNPrs2839223 Polymorphismp.GLY704GLUN/A
dbSNPrs34500739 Polymorphismp.HIS237GLNN/A
dbSNPrs35978208 Polymorphismp.HIS2125PRON/A
dbSNPrs6518291 Polymorphismp.ILE1639VALN/A
dbSNPrs61735822 Polymorphismp.ILE174VALN/A
dbSNPrs2839245 Polymorphismp.LEU2097PRON/A
Swiss-ProtVAR_056971Polymorphismp.LEU2975PRON/A
dbSNPrs1044998 Polymorphismp.MET2188ARGN/A
Swiss-ProtVAR_056963Polymorphismp.PRO2329ARGN/A
dbSNPrs2070425 Polymorphismp.PRO2274LEUN/A
dbSNPrs61735814 Polymorphismp.PRO2377LEUN/A
dbSNPrs4818842 Polymorphismp.SER3091GLYN/A
dbSNPrs34151633 Polymorphismp.SER2191PRON/A
dbSNPrs9981448 Polymorphismp.THR2206ALAN/A
dbSNPrs2839227 Polymorphismp.THR879ALAN/A
dbSNPrs2249060 Polymorphismp.THR539ILEN/A
dbSNPrs60078675 Polymorphismp.THR3005METN/A
dbSNPrs35346764 Polymorphismp.TRP2239ARGN/A
dbSNPrs6518289 Polymorphismp.VAL1038ALAN/A
OMIM605925.0004 Diseasep.ARG1923TERMICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
OMIM605925.0008 Diseasep.ARG2918TERMICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
OMIM605925.0009 Diseasep.GLN1280HISMICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
OMIM605925.0006 Diseasep.GLU1037TERMICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
OMIM605925.0011 Diseasep.GLU1154TERMICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II
OMIM605925.0001 Diseasep.GLU220TERMICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II



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