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Results for the Protein: NP_001263627
454545207

cellular tumor antigen p53 isoform k [Homo sapiens]

Known Diseases associated with this Protein:
  ADRENOCORTICAL CARCINOMA, PEDIATRIC
  CERVICAL CANCER, SOMATIC, INCLUDED
  CHOROID PLEXUS CARCINOMA, INCLUDED
  COLON CANCER, INCLUDED
  COLORECTAL CANCER
  GLIOMA SUSCEPTIBILITY 1
  HEPATOBLASTOMA
  HEPATOCELLULAR CARCINOMA, SOMATIC
  LI-FRAUMENI SYNDROME 1
  LI-FRAUMENI-LIKE SYNDROME
  NASOPHARYNGEAL CARCINOMA, SOMATIC
  NON-HODGKIN LYMPHOMA
  OSTEOSARCOMA, INCLUDED
  THYROID CARCINOMA, ANAPLASTIC, SOMATIC, INCLUDED
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Default View:

P53 - pfam00870
P53 - cd08367




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
P53pfam008704.8e-711130

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM191170.0038 Diseasep.ALA30VALCOLORECTAL CANCER
OMIM191170.0010 Diseasep.ARG89GLNLI-FRAUMENI SYNDROME 1
OMIM191170.0020 Diseasep.ARG114HISLI-FRAUMENI SYNDROME 1||THYROID CARCINOMA, ANAPLASTIC, SOMATIC, INCLUDED
OMIM191170.0030 Diseasep.ARG16HISLI-FRAUMENI SYNDROME 1
OMIM191170.0035 Diseasep.ARG222HISADRENOCORTICAL CARCINOMA, PEDIATRIC
OMIM191170.0042 Diseasep.ARG22LEUGLIOMA SUSCEPTIBILITY 1
OMIM191170.0006 Diseasep.ARG90SERHEPATOCELLULAR CARCINOMA, SOMATIC||CERVICAL CANCER, SOMATIC, INCLUDED
OMIM191170.0024 Diseasep.ARG121THRNASOPHARYNGEAL CARCINOMA, SOMATIC
OMIM191170.0018 Diseasep.ARG123TRPLI-FRAUMENI-LIKE SYNDROME
OMIM191170.0001 Diseasep.ARG89TRPLI-FRAUMENI SYNDROME 1
OMIM191170.0008 Diseasep.CYS83TYRLI-FRAUMENI-LIKE SYNDROME
OMIM191170.0002 Diseasep.GLU99LYSLI-FRAUMENI SYNDROME 1
OMIM191170.0040 Diseasep.GLU126VALADRENOCORTICAL CARCINOMA, PEDIATRIC||CHOROID PLEXUS CARCINOMA, INCLUDED
OMIM191170.0009 Diseasep.GLY86ASPLI-FRAUMENI SYNDROME 1
OMIM191170.0003 Diseasep.GLY86CYSLI-FRAUMENI SYNDROME 1
OMIM191170.0019 Diseasep.GLY86SERLI-FRAUMENI-LIKE SYNDROME
OMIM191170.0021 Diseasep.GLY166VALNON-HODGKIN LYMPHOMA||COLON CANCER, INCLUDED
OMIM191170.0028 Diseasep.LEU98GLNLI-FRAUMENI-LIKE SYNDROME
OMIM191170.0031 Diseasep.LEU229PROLI-FRAUMENI SYNDROME 1
OMIM191170.0034 Diseasep.LYS133ILELI-FRAUMENI SYNDROME 1
OMIM191170.0013 Diseasep.SER82PHEHEPATOBLASTOMA||OSTEOSARCOMA, INCLUDED
OMIM191170.0039 Diseasep.TYR61SERLI-FRAUMENI SYNDROME 1
OMIM191170.0012 Diseasep.VAL113LEULI-FRAUMENI SYNDROME 1



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