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TP53 - tumor protein p53

Synonym(s) : LFS1, Li-Fraumeni syndrome, P53, p53
Previous symbols and names : _
Type : gene with protein product
Chromosomal location : 17p13.1
OMIM: 191170
HGNC: 11998
UniProtKB: P04637
Genatlas: TP53
GenCC: TP53
Ensembl: ENSG00000141510
IUPHAR-DB: -
Reactome: P04637
LOVD: TP53

Diseases list

Disease-causing germline mutation(s) in Adrenocortical carcinoma ORPHA:1501
Disease-causing germline mutation(s) in Alveolar rhabdomyosarcoma ORPHA:99756
Disease-causing germline mutation(s) in Choroid plexus carcinoma ORPHA:251899
Disease-causing germline mutation(s) in Embryonal rhabdomyosarcoma ORPHA:99757
Disease-causing germline mutation(s) in Li-Fraumeni syndrome ORPHA:524
Disease-causing germline mutation(s) in Osteosarcoma ORPHA:668
Disease-causing germline mutation(s) in Papilloma of choroid plexus ORPHA:2807
Disease-causing germline mutation(s) in Pleomorphic rhabdomyosarcoma ORPHA:293199
Disease-causing somatic mutation(s) in Adrenocortical carcinoma ORPHA:1501
Disease-causing somatic mutation(s) in B-cell chronic lymphocytic leukemia ORPHA:67038
Disease-causing somatic mutation(s) in Cushing disease ORPHA:96253
Disease-causing somatic mutation(s) in Osteosarcoma ORPHA:668
Disease-causing somatic mutation(s) in Small cell lung cancer ORPHA:70573
Major susceptibility factor in Familial pancreatic carcinoma ORPHA:1333
Biomarker tested in B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) ORPHA:585909
Biomarker tested in Essential thrombocythemia ORPHA:3318
Biomarker tested in Giant cell glioblastoma ORPHA:251579
Biomarker tested in Gliosarcoma ORPHA:251576
Candidate gene tested in Adult hepatocellular carcinoma ORPHA:210159
Candidate gene tested in Hereditary breast and/or ovarian cancer syndrome ORPHA:145

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (495)

Research activities on this gene

Specialised Social Services

Eurordis directory

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