Gene
TP53
tumor protein p53
- HGNC 11998↗(opens in a new tab)
- Ensembl gene ENSG00000141510↗(opens in a new tab)
- NCBI Gene 7157↗(opens in a new tab)
Summary
- Cytogenetic location
- 17p13.1
- Coordinates
- Chromosome 17: 7,668,421–7,687,490 (GRCh38)
- Exons
- 11 exons across 19.1 kb
- Protein
- 393 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- p53, LFS1
- MANE Select transcript
- ENST00000269305.9NM_000546.6
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Kidney Cancer
Primary or metastatic malignant neoplasm involving the kidney.
- 1 GenCC submitter rates it definitive or strong
Li-Fraumeni Syndrome
- Autosomal dominant
A TP53-related cancer predisposition syndrome with early-onset sarcomas, breast cancer, brain tumours, adrenocortical carcinoma and leukaemia.
- ClinGen rates the link definitive
- 5 GenCC submitters rate it definitive or strong
- On the ACMG secondary findings list
What knowing changes
Whole-body MRI surveillance, minimized radiation exposure, adrenocortical cancer screening, cascade testing, prenatal/preimplantation genetic diagnosis
Malignant Endocrine Neoplasm
A malignant neoplasm affecting the endocrine glands. Representative examples include thyroid gland carcinoma, parathyroid gland carcinoma, pituitary gland carcinoma, and adrenal cortex carcinoma.
- 1 GenCC submitter rates it definitive or strong
Urinary and Renal System Tumour
- Urinary System Neoplasm
A benign or malignant, primary or metastatic neoplasm involving the urinary system.
- 1 GenCC submitter rates it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How TP53 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
- Variants with a page
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 2.5 kb of the gene's 19.1 kb; 1,182 of those bases code for the protein.
How a genome test reads TP53
596
positions in TP53 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 19.1 kb of TP53, introns included, not only the 2.5 kb of exons.
Variants with a page (162)
The TP53 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.
| Variant | HGVS c. | Exon or intron | Position (GRCh38) | ClinVar classification | Review status |
|---|---|---|---|---|---|
| A138P | c.412G>C | Exon 5 | 7,675,200 | Likely pathogenic | ★★★★3 stars out of 4 reviewed by expert panel |
| A138V | c.413C>T | Exon 5 | 7,675,199 | Likely pathogenic | ★★★★3 stars out of 4 reviewed by expert panel |
| A161_Y163delinsD | c.482_487del | Exon 5 | 7,675,124 | Likely pathogenic | ★★★★3 stars out of 4 reviewed by expert panel |
| A347D | c.1040C>A | Exon 10 | 7,670,669 | Pathogenic | ★★★★3 stars out of 4 reviewed by expert panel |
| c.-29+1G>T | Intron 1 | 7,687,376 | Likely pathogenic | ★★★★3 stars out of 4 reviewed by expert panel | |
| c.97-1G>A | Intron 3 | 7,676,273 | Pathogenic | ★★★★3 stars out of 4 reviewed by expert panel | |
| c.375+5G>A | Intron 4 | 7,675,989 | Likely pathogenic | ★★★★3 stars out of 4 reviewed by expert panel | |
| c.919+1G>A | Intron 8 | 7,673,700 | Pathogenic | ★★★★3 stars out of 4 reviewed by expert panel | |
| c.993+1del | Intron 9 | 7,673,533 | Likely pathogenic | ★★★★3 stars out of 4 reviewed by expert panel | |
| C124X | c.372C>A | Exon 4 | 7,675,997 | Pathogenic | ★★★★3 stars out of 4 reviewed by expert panel |
Genes linked to the same conditions
- BAP1BRCA1 associated deubiquitinase 1Shares 2 conditions
- ELP4elongator acetyltransferase complex subunit 4Shares 2 conditions
- FLCNfolliculinShares 2 conditions
- METMET proto-oncogene, receptor tyrosine kinaseShares 2 conditions
- PAX6paired box 6Shares 2 conditions
- RETret proto-oncogeneShares 2 conditions
- SDHAsuccinate dehydrogenase complex flavoprotein subunit AShares 2 conditions
- SDHAF2succinate dehydrogenase complex assembly factor 2Shares 2 conditions
- SDHBsuccinate dehydrogenase complex iron sulfur subunit BShares 2 conditions
- TRIM28tripartite motif containing 28Shares 2 conditions
- VHLvon Hippel-Lindau tumor suppressorShares 2 conditions
- CDC73cell division cycle 73Shares 1 condition
Traits linked to TP53
The Human Phenotype Ontology lists these as features of the rare conditions TP53 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Choroid plexus carcinoma
- Global developmental delay
- Intellectual disability
- Abnormal shape of nervous system
- Pins and needles feeling
- Too much cerebrospinal fluid in the brain
- Anxiety
- Behavioral abnormality
Show 22 more traits
- Can't control feelings
- Difficulty staying or falling asleep
- Grand mal seizures
- Headache
- Irritability
- Migraine
- Panic attack
- Astrocytoma
- Cognitive impairment
- Depression
- Ependymoma
- Epilepsy
- Glioblastoma multiforme
- Memory impairment
- Paralysis or weakness of one side of body
- Psychotic episodes
- Suicidal ideation
- Tumors of the central nervous system
- Dementia
- Medulloblastoma
- Paranoia
- Psychosis
Abnormality of blood and blood-forming tissues
- Erythroid hypoplasia
- Low number of red blood cells or hemoglobin
- Pure red cell aplasia
- Abnormal shape of platelets
- Blood clot in artery
- Blood clot in vein
- Bone marrow disease
- Increased megakaryocyte count
Show 21 more traits
- Increased number of platelets in blood
- Megakaryocyte nucleus hyperlobulation
- Platelet abnormalities
- Prolonged bleeding time
- Bleeding tendency
- Bruising susceptibility
- Decreased blood lymphocyte number
- Decreased total eosinophil count
- Elevated white blood count
- Acute blood cancer
- Blood cancer
- Blood clot in liver vein
- Blood spots
- Cancer of lymphatic system
- Ecchymosis
- Myelodysplasia
- Myelofibrosis
- Acute lymphoblastic leukemia
- Acute myeloid leukemia
- Hodgkin lymphoma
- Non-Hodgkin lymphoma
Abnormality of the digestive system
- Pancreatic adenocarcinoma
- Abdominal pain
- Anorexia
- Inability to properly digest food due to lack of pancreatic digestive enzymes
- Poor appetite
- Primary peritoneal carcinoma
- Extrahepatic cholestasis
- Functional intestinal obstruction
Show 19 more traits
- Intestinal pseudo-obstruction
- Jaundice
- Cancer of the pancreas
- Colon cancer
- Colorectal polyposis
- Gastrointestinal tract tumor
- Intermittent diarrhea
- Liver cancer
- Nausea and vomiting
- Peritoneal abscess
- Stomach cancer
- Rectal tumor
- Hepatocellular carcinoma
- Hereditary nonpolyposis colorectal carcinoma
- Micronodular cirrhosis
- Nausea
- Stomach tumor
- Subacute progressive viral hepatitis
- Vomiting
Abnormality of the endocrine system
- Adrenocortical carcinoma
- Decreased activity of gonads
- Increased circulating cortisol level
- Paradoxical increased cortisol secretion on dexamethasone suppression test
- Pituitary corticotropic cell adenoma
- Abnormal circulating dehydroepiandrosterone concentration
- Adrenocorticotropic hormone deficiency
- Elevated plasma aldosterone
Abnormality of the cardiovascular system
- Abnormality of the cerebral blood vessels
- Heart attack
- Abnormality of the cardiovascular system
- Capillary fragility
- High blood pressure
- Increased spleen size
- Palpitations
- Swollen lymph nodes
Show 4 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). TP53 gene: tumor protein p53. Retrieved 16 October 2026, from https://dantelabs.com/genes/tp53
Dante Labs. TP53 gene: tumor protein p53 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/tp53
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