TP53

tumor protein p53

Summary

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]

Known Variants1,491 total

rsidPosition (GRCh37)AllelesClassClinVar
rs104980094917:7,571,192G/C—likely benign
rs207274056917:7,571,198G/A—likely benign
rs207274067117:7,571,206G/A—likely benign
rs88659611217:7,571,217A/C—likely benign
rs207274079417:7,571,219C/T—likely benign
rs146075094017:7,571,222C/T—likely benign
rs3478553617:7,571,224C/A—likely benign
rs18315332817:7,571,226C/A—benign
rs207274141217:7,571,227C/T—likely benign
rs207274147617:7,571,228C/A—likely benign
rs207274153517:7,571,232C/T—uncertain significance
rs207274168017:7,571,241T/G—uncertain significance
rs207274180117:7,571,244C/T—likely benign
rs89557795217:7,571,247C/T—likely benign
rs95778420917:7,571,251C/T—likely benign
rs161498417:7,571,452A/G—benign
rs105655041717:7,571,512C/T—likely benign
rs78152022717:7,571,513G/A—likely benign
rs1788378217:7,571,706C/G—likely benign
rs7837822217:7,571,752T/G3 prime UTR variantpathogenic
rs91807375617:7,571,758T/C—likely benign
rs88605349917:7,571,767A/C—uncertain significance
rs104410260317:7,571,795G/A—conflicting classifications of pathogenicity
rs11483147217:7,571,857G/A—likely benign
rs88605350017:7,571,950C/G—uncertain significance
rs5581736717:7,571,991T/C—likely benign
rs1788430617:7,572,101C/T3 prime UTR variantbenign
rs88605350117:7,572,121G/T—uncertain significance
rs88605350217:7,572,137C/T—uncertain significance
rs20037879717:7,572,154G/A—benign
rs92550679717:7,572,166A/G—uncertain significance
rs93574395117:7,572,167A/G—uncertain significance
rs19972922117:7,572,173G/A—uncertain significance
rs88605350417:7,572,180G/A—uncertain significance
rs88605350517:7,572,192G/T—uncertain significance
rs88605350617:7,572,301G/A—uncertain significance
rs1787935317:7,572,314G/T3 prime UTR variantbenign
rs88605350717:7,572,362C/A—uncertain significance
rs88605350817:7,572,379C/A—uncertain significance
rs496818717:7,572,442C/T—benign
rs19191807917:7,572,518G/T—likely benign
rs88605350917:7,572,545G/A—uncertain significance
rs53462431517:7,572,570A/G—likely benign
rs88605351017:7,572,580A/G—uncertain significance
rs88605351117:7,572,581C/A—uncertain significance
rs1788136617:7,572,599C/T—benign
rs88605351217:7,572,600G/A—uncertain significance
rs1695688017:7,572,722C/T—benign
rs207281895617:7,572,759G/A—uncertain significance
rs37100241817:7,572,783C/T—uncertain significance
rs88605351317:7,572,828C/T—uncertain significance
rs87925403017:7,572,911C/A—uncertain significance
rs37429434017:7,572,912A/G—likely benign
rs105752091517:7,572,914G/A—likely benign
rs36956770417:7,572,921A/T—likely benign
rs155552407417:7,572,927T/A—uncertain significance
rs215098794217:7,572,928C/A—uncertain significance
rs155552407917:7,572,929A/C—uncertain significance
rs207282993117:7,572,930G/C—conflicting classifications of pathogenicity
rs119292162317:7,572,932C/T—conflicting classifications of pathogenicity
rs215098804117:7,572,935A/G—uncertain significance
rs156754013317:7,572,936G/C—uncertain significance
rs215098807417:7,572,938C/T—conflicting classifications of pathogenicity
rs215098809417:7,572,939A/C—likely benign
rs159734523217:7,572,941G/T—uncertain significance
rs159734524617:7,572,942C/A—likely benign
rs58778306417:7,572,944C/A—uncertain significance
rs207283208517:7,572,945T/A—likely benign
rs58778173617:7,572,946T/G—likely benign
rs215098822517:7,572,947C/G—likely benign
rs113169101717:7,572,948T/C—likely benign
rs92788864717:7,572,949G/C—conflicting classifications of pathogenicity
rs215098826917:7,572,950T/G—likely benign
rs215098828117:7,572,951C/T—likely benign
rs159734531417:7,572,952T/C—conflicting classifications of pathogenicity
rs215098830717:7,572,954G/T—likely benign
rs155552409417:7,572,956A/G—likely benign
rs159734534417:7,572,957C/T—conflicting classifications of pathogenicity
rs106050119617:7,572,958A/C—uncertain significance
rs73088200917:7,572,959T/A—uncertain significance
rs37371065617:7,572,960G/A—likely benign
rs207283441917:7,572,961A/G—uncertain significance
rs15084206717:7,572,962G/A—conflicting classifications of pathogenicity
rs156754028017:7,572,963T/C—likely benign
rs207283519117:7,572,964T/G—uncertain significance
rs207283537117:7,572,968T/C—uncertain significance
rs254345113117:7,572,970T/C—uncertain significance
rs78620236817:7,572,972G/A—likely benign
rs86322468217:7,572,973C/A—likely benign
rs74906159917:7,572,974G/A—conflicting classifications of pathogenicity
rs106050416517:7,572,975G/A—likely benign
rs155552413017:7,572,976G/C—conflicting classifications of pathogenicity
rs145683666017:7,572,978G/T—likely benign
rs159734554917:7,572,979G/A—conflicting classifications of pathogenicity
rs77097098717:7,572,980———
rs77426971917:7,572,980T/Cmissense variantuncertain significance
rs155552415117:7,572,982G/A—uncertain significance
rs76401163117:7,572,984C/A—uncertain significance
rs73088201717:7,572,984——pathogenic
rs155552415617:7,572,986G/A—uncertain significance

Showing 100 of 1,491 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.