TP53 Chromosome 17
Tumor protein p53
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What This Gene Does
This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons from identical transcript variants (PMIDs: 12032546, 20937277). [provided by RefSeq, Dec 2016]
Associated Conditions (136)
Poly (ADP-Ribose) polymerase inhibitor response
Li-Fraumeni syndrome
Hereditary cancer-predisposing syndrome
Li-Fraumeni syndrome 1
Familial cancer of breast
Squamous cell carcinoma of the head and neck
Adrenocortical carcinoma
hereditary
Breast and/or ovarian cancer
Diffuse glioma
H3 G34 mutant
Colorectal cancer
Malignant tumor of esophagus
Neoplasm
Astrocytoma IDH-mutant
Ovarian neoplasm
Embryonal rhabdomyosarcoma
Lung cancer
Choroid plexus carcinoma
TP53-related disorder
+116 more conditions
Key Variants
RS1057519625
drug response
Poly (ADP-Ribose) polymerase inhibitor response, Poly (ADP-Ribose) polymerase inhibitor response
Drug Response
RS1008479744
Conflicting classifications of pathogenicity
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
Health Risk
RS1042522
Conflicting classifications of pathogenicity
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
Health Risk
RS1044102603
Conflicting classifications of pathogenicity
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1
Health Risk
RS1046611742
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
Health Risk
RS1048095040
Conflicting classifications of pathogenicity
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome, Familial cancer of breast
Health Risk
RS1057517593
Conflicting classifications of pathogenicity
Li-Fraumeni syndrome 1, Li-Fraumeni syndrome, Breast and/or ovarian cancer
Health Risk
RS1057519747
Conflicting classifications of pathogenicity
Li-Fraumeni syndrome, Adrenocortical carcinoma, hereditary
Health Risk
RS1057519976
Conflicting classifications of pathogenicity
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1
Health Risk
RS1057519978
Conflicting classifications of pathogenicity
Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
Health Risk
RS1057519981
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
Health Risk
RS1057519982
Conflicting classifications of pathogenicity
Li-Fraumeni syndrome 1, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
Health Risk
All Variants (1152)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2543530342 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543534871 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543535052 | Health Risk | Pathogenic | Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543535390 | Health Risk | Pathogenic | Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543535637 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543535971 | Health Risk | Pathogenic | Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543536786 | Health Risk | Pathogenic | Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543536944 | Health Risk | Pathogenic | Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543537612 | Health Risk | Pathogenic | Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543537706 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543538127 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543538334 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543538855 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543538973 | Health Risk | Pathogenic | Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543540395 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543540561 | Health Risk | Pathogenic | Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543540747 | Health Risk | Pathogenic | Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543541281 | Health Risk | Pathogenic | Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543541435 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543541469 | Health Risk | Pathogenic | Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543542080 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543542605 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543542919 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome |
| RS2543544318 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543544448 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543544806 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543545366 | Health Risk | Pathogenic | Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543546140 | Health Risk | Pathogenic | Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543546771 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543546966 | Health Risk | Pathogenic | Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543556379 | Health Risk | Pathogenic | TP53-related disorder, TP53-related disorder |
| RS2543556959 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543557583 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543557785 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543558212 | Health Risk | Pathogenic | Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543558347 | Health Risk | Pathogenic | — |
| RS2543558391 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543558934 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Neoplasm, Hereditary cancer-predisposing syndrome |
| RS2543559366 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543559880 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543560251 | Health Risk | Pathogenic | Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543560402 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543560792 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543561107 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543561395 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543561894 | Health Risk | Pathogenic | Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |
| RS2543562084 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543562541 | Health Risk | Pathogenic | Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome |
| RS2543562889 | Health Risk | Pathogenic | Li-Fraumeni syndrome, Li-Fraumeni syndrome |
| RS2543562994 | Health Risk | Pathogenic | Li-Fraumeni syndrome 1, Li-Fraumeni syndrome 1 |