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Results for the Protein: P35222
461854

CTNB1_HUMAN RecName: Full=Catenin beta-1; AltName: Full=Beta-catenin

Known Diseases associated with this Protein:
  COLORECTAL CANCER, SOMATIC
  DESMOID TUMOR, SOMATIC, INCLUDED
  HEPATOBLASTOMA, SOMATIC
  HEPATOCELLULAR CARCINOMA, SOMATIC
  MEDULLOBLASTOMA (MDB)
  MEDULLOBLASTOMA, SOMATIC, INCLUDED
  MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
  OVARIAN CANCER, SOMATIC
  PILOMATRICOMA, SOMATIC
  PILOMATRICOMA, SOMATIC, INCLUDED
  PILOMATRIXOMA (PTR)
23
11
14
0
20
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Default View:

ARM - smart00185
Arm - pfam00514
ARM - cd00020




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ARMcd000205.6e-24229349
ARMcd000204.5e-25395519
ARMcd000207.4e-37525664
Armpfam005141.4e-06224264
Armpfam005142.3e-09350390
Armpfam005144.3e-06431473
Armpfam005141.2e-08583623
ARMsmart001850.00028181223
ARMsmart001857.7e-07224264
ARMsmart001850.00032265306
ARMsmart001851.2e-09350390
ARMsmart001852.5e-06430473
ARMsmart001850.00029478519
ARMsmart001858.1e-22520582
ARMsmart001851.8e-06583623
ARMsmart001850.00035624664

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_017614Polymorphismp.ASP32ALAN/A
Swiss-ProtVAR_017615Diseasep.ASP32GLYPilomatrixoma (PTR)
Swiss-ProtVAR_017616Diseasep.ASP32TYRPilomatrixoma (PTR)
Swiss-ProtVAR_017621Polymorphismp.GLY34ARGN/A
Swiss-ProtVAR_017620Diseasep.GLY34GLUPilomatrixoma (PTR)
Swiss-ProtVAR_017622Polymorphismp.GLY34VALN/A
Swiss-ProtVAR_017623Polymorphismp.ILE35SERN/A
Swiss-ProtVAR_018954Polymorphismp.MET688VALN/A
Swiss-ProtVAR_017624Diseasep.SER37ALAMedulloblastoma (MDB)
Swiss-ProtVAR_017612Polymorphismp.SER23ARGN/A
Swiss-ProtVAR_017625Diseasep.SER37CYSPilomatrixoma (PTR)
Swiss-ProtVAR_017618Polymorphismp.SER33LEUN/A
Swiss-ProtVAR_017617Diseasep.SER33PHEPilomatrixoma (PTR)
Swiss-ProtVAR_017626Diseasep.SER37PHEPilomatrixoma (PTR)
Swiss-ProtVAR_017631Polymorphismp.SER45PHEN/A
Swiss-ProtVAR_017632Polymorphismp.SER45PRON/A
Swiss-ProtVAR_017619Diseasep.SER33TYRPilomatrixoma (PTR)
Swiss-ProtVAR_017627Polymorphismp.SER37TYRN/A
Swiss-ProtVAR_017629Polymorphismp.THR41ALAN/A
Swiss-ProtVAR_017630Diseasep.THR41ILEPilomatrixoma (PTR)
OMIM116806.0018 Diseasep.ARG515TERMENTAL RETARDATION, AUTOSOMAL DOMINANT 19
OMIM116806.0006 Diseasep.ASP32GLYPILOMATRICOMA, SOMATIC
OMIM116806.0004 116806.0016 Diseasep.ASP32TYRPILOMATRICOMA, SOMATIC
OMIM116806.0019 Diseasep.GLN309TERMENTAL RETARDATION, AUTOSOMAL DOMINANT 19
OMIM116806.0008 Diseasep.GLY34GLUPILOMATRICOMA, SOMATIC
OMIM116806.0005 Diseasep.GLY34VALHEPATOBLASTOMA, SOMATIC
OMIM116806.0009 116806.0012 Diseasep.SER37CYSOVARIAN CANCER, SOMATIC
OMIM116806.0007 Diseasep.SER33PHEPILOMATRICOMA, SOMATIC||MEDULLOBLASTOMA, SOMATIC, INCLUDED
OMIM116806.0010 Diseasep.SER37PHEPILOMATRICOMA, SOMATIC
OMIM116806.0013 Diseasep.SER45PHEHEPATOCELLULAR CARCINOMA, SOMATIC
OMIM116806.0014 Diseasep.SER45PROHEPATOCELLULAR CARCINOMA, SOMATIC
OMIM116806.0002 Diseasep.SER33TYRCOLORECTAL CANCER, SOMATIC||PILOMATRICOMA, SOMATIC, INCLUDED
OMIM116806.0003 Diseasep.THR41ALAHEPATOBLASTOMA, SOMATIC||DESMOID TUMOR, SOMATIC, INCLUDED
OMIM116806.0011 Diseasep.THR41ILEPILOMATRICOMA, SOMATIC



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