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Results for the Protein: NP_001119585
187830823

cellular tumor antigen p53 isoform c [Homo sapiens]

Known Diseases associated with this Protein:
  ADRENOCORTICAL CARCINOMA, PEDIATRIC
  BREAST CANCER, SOMATIC
  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
  PANCREATIC CANCER, SOMATIC
  THYROID CARCINOMA, ANAPLASTIC, SOMATIC, INCLUDED
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Default View:

P53_TAD - pfam08563
P53 - pfam00870
P53 - cd08367




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
P53pfam008706.1e-15095289
P53_TADpfam085632.8e-09529

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1042522 Polymorphismp.PRO72ARGN/A
dbSNPrs1800371 Polymorphismp.PRO47SERN/A
OMIM191170.0032 Diseasep.ALA138PROLI-FRAUMENI SYNDROME 1
OMIM191170.0038 Diseasep.ALA189VALCOLORECTAL CANCER
OMIM191170.0010 Diseasep.ARG248GLNLI-FRAUMENI SYNDROME 1
OMIM191170.0030 Diseasep.ARG175HISLI-FRAUMENI SYNDROME 1
OMIM191170.0020 Diseasep.ARG273HISLI-FRAUMENI SYNDROME 1||THYROID CARCINOMA, ANAPLASTIC, SOMATIC, INCLUDED
OMIM191170.0035 Diseasep.ARG357HISADRENOCORTICAL CARCINOMA, PEDIATRIC
OMIM191170.0042 Diseasep.ARG181LEUGLIOMA SUSCEPTIBILITY 1
OMIM191170.0006 Diseasep.ARG249SERHEPATOCELLULAR CARCINOMA, SOMATIC||CERVICAL CANCER, SOMATIC, INCLUDED
OMIM191170.0024 Diseasep.ARG280THRNASOPHARYNGEAL CARCINOMA, SOMATIC
OMIM191170.0001 Diseasep.ARG248TRPLI-FRAUMENI SYNDROME 1
OMIM191170.0018 Diseasep.ARG282TRPLI-FRAUMENI-LIKE SYNDROME
OMIM191170.0008 Diseasep.CYS242TYRLI-FRAUMENI-LIKE SYNDROME
OMIM191170.0002 Diseasep.GLU258LYSLI-FRAUMENI SYNDROME 1
OMIM191170.0040 Diseasep.GLU285VALADRENOCORTICAL CARCINOMA, PEDIATRIC||CHOROID PLEXUS CARCINOMA, INCLUDED
OMIM191170.0009 Diseasep.GLY245ASPLI-FRAUMENI SYNDROME 1
OMIM191170.0003 Diseasep.GLY245CYSLI-FRAUMENI SYNDROME 1
OMIM191170.0019 Diseasep.GLY245SERLI-FRAUMENI-LIKE SYNDROME
OMIM191170.0021 Diseasep.GLY325VALNON-HODGKIN LYMPHOMA||COLON CANCER, INCLUDED
OMIM191170.0028 Diseasep.LEU257GLNLI-FRAUMENI-LIKE SYNDROME
OMIM191170.0027 Diseasep.LEU35PHEPANCREATIC CANCER, SOMATIC
OMIM191170.0031 Diseasep.LEU364PROLI-FRAUMENI SYNDROME 1
OMIM191170.0034 Diseasep.LYS292ILELI-FRAUMENI SYNDROME 1
OMIM191170.0017 Diseasep.LYS120TERLI-FRAUMENI-LIKE SYNDROME
OMIM191170.0011 Diseasep.MET133THRLI-FRAUMENI SYNDROME 1
OMIM191170.0026 Diseasep.PRO151SERBREAST CANCER, SOMATIC
OMIM191170.0025 Diseasep.PRO151THRBREAST CANCER, SOMATIC
OMIM191170.0013 Diseasep.SER241PHEHEPATOBLASTOMA||OSTEOSARCOMA, INCLUDED
OMIM191170.0039 Diseasep.TYR220SERLI-FRAUMENI SYNDROME 1
OMIM191170.0012 Diseasep.VAL272LEULI-FRAUMENI SYNDROME 1
OMIM191170.0007 Diseasep.VAL157PHEHEPATOCELLULAR CARCINOMA, SOMATIC



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