TP63

tumor protein p63

Summary

This gene encodes a member of the p53 family of transcription factors. The functional domains of p53 family proteins include an N-terminal transactivation domain, a central DNA-binding domain and an oligomerization domain. Alternative splicing of this gene and the use of alternative promoters results in multiple transcript variants encoding different isoforms that vary in their functional properties. These isoforms function during skin development and maintenance, adult stem/progenitor cell regulation, heart development and premature aging. Some isoforms have been found to protect the germline by eliminating oocytes or testicular germ cells that have suffered DNA damage. Mutations in this gene are associated with ectodermal dysplasia, and cleft lip/palate syndrome 3 (EEC3); split-hand/foot malformation 4 (SHFM4); ankyloblepharon-ectodermal defects-cleft lip/palate; ADULT syndrome (acro-dermato-ungual-lacrimal-tooth); limb-mammary syndrome; Rap-Hodgkin syndrome (RHS); and orofacial cleft 8. [provided by RefSeq, Aug 2016]

Known Variants624 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4687074	3:189,334,224	A/G	intergenic variant	—
rs7610017	3:189,343,424	A/C	—	—
rs35139818	3:189,346,959	C/G	upstream gene variant	—
rs7631358	3:189,348,411	G/A	regulatory region variant	—
rs57935694	3:189,348,936	C/T	—	likely benign
rs747090025	3:189,349,218	C/T	—	uncertain significance
rs886058220	3:189,349,240	C/T	—	uncertain significance
rs28673064	3:189,349,247	A/T	—	benign
rs1729451583	3:189,349,267	T/C	—	uncertain significance
rs770510830	3:189,349,302	G/C	—	uncertain significance
rs1028553870	3:189,349,307	G/T	—	likely pathogenic
rs376627647	3:189,349,323	C/T	—	uncertain significance
rs568702479	3:189,349,324	G/T	—	likely benign
rs1255910627	3:189,349,330	C/G	—	uncertain significance
rs1729455945	3:189,349,331	C/T	—	likely benign
rs1202549612	3:189,349,339	A/C	—	uncertain significance
rs1729457321	3:189,349,351	A/G	—	uncertain significance
rs1408730457	3:189,349,354	C/G	—	uncertain significance
rs1729458021	3:189,349,357	A/G	—	uncertain significance
rs1452651956	3:189,349,365	C/T	—	uncertain significance
rs766583971	3:189,349,366	G/A	—	uncertain significance
rs756599325	3:189,349,384	A/G	—	likely benign
rs77398377	3:189,349,591	C/T	—	likely benign
rs4396880	3:189,356,221	G/A	intron variant	—
rs4488809	3:189,356,261	T/C	intron variant	benign
rs13080835	3:189,357,199	G/T	intron variant	—
rs13314271	3:189,357,602	T/C	intron variant	benign
rs1920245	3:189,374,233	G/T	—	benign
rs4505678	3:189,374,357	T/A	—	benign
rs148095450	3:189,374,597	C/T	—	likely benign
rs9853796	3:189,374,642	G/C	—	benign
rs10937405	3:189,383,183	C/A	—	—
rs2378508	3:189,383,780	T/C	intron variant	—
rs73195974	3:189,399,149	A/G	—	benign
rs9846059	3:189,399,241	T/C	—	benign
rs73892306	3:189,399,284	G/A	—	benign
rs11709407	3:189,399,370	G/A	—	benign
rs58267455	3:189,399,429	C/T	—	benign
rs1920283	3:189,399,533	A/G	—	benign
rs17505102	3:189,401,776	G/C	regulatory region variant	—
rs4687085	3:189,424,565	A/T	—	benign
rs9873352	3:189,425,093	T/G	—	—
rs10937410	3:189,449,218	T/C	—	benign
rs11922764	3:189,449,255	G/T	—	benign
rs77778969	3:189,449,463	A/G	—	benign
rs75548317	3:189,455,193	G/A	—	benign
rs76313891	3:189,455,380	A/G	—	benign
rs2108795452	3:189,455,509	T/A	—	likely benign
rs2474131664	3:189,455,511	C/A	—	likely benign
rs768649694	3:189,455,512	A/G	—	benign
rs200607940	3:189,455,528	G/C	—	likely benign
rs144315591	3:189,455,533	G/A	—	uncertain significance
rs2474131720	3:189,455,538	A/T	—	uncertain significance
rs773098305	3:189,455,541	C/T	—	likely benign
rs370716448	3:189,455,550	T/G	—	conflicting classifications of pathogenicity
rs2474131800	3:189,455,562	A/G	—	likely benign
rs147340040	3:189,455,575	C/T	—	conflicting classifications of pathogenicity
rs754361670	3:189,455,576	G/A	—	uncertain significance
rs779485146	3:189,455,580	C/T	—	likely benign
rs139505005	3:189,455,583	C/T	—	likely benign
rs779859382	3:189,455,585	T/G	—	uncertain significance
rs1042354976	3:189,455,588	C/T	—	uncertain significance
rs2108795564	3:189,455,591	A/T	—	uncertain significance
rs746479227	3:189,455,597	C/T	—	uncertain significance
rs2474131944	3:189,455,605	A/G	—	uncertain significance
rs768304711	3:189,455,607	T/C	—	likely benign
rs2474131954	3:189,455,608	G/A	—	uncertain significance
rs1245371733	3:189,455,610	A/T	—	likely benign
rs1577328344	3:189,455,616	C/T	—	likely benign
rs780898702	3:189,455,622	A/G	—	likely benign
rs924896139	3:189,455,625	G/C	—	uncertain significance
rs2108795623	3:189,455,642	G/C	—	uncertain significance
rs1553824695	3:189,455,662	G/C	—	uncertain significance
rs772213320	3:189,455,666	A/G	—	likely benign
rs34875865	3:189,455,681	C/T	—	benign
rs74612319	3:189,455,911	C/G	—	benign
rs75754687	3:189,455,932	A/C	—	likely benign
rs115807793	3:189,456,144	A/G	—	likely benign
rs780843357	3:189,456,422	A/G	—	likely benign
rs777769671	3:189,456,433	C/T	—	uncertain significance
rs201631366	3:189,456,449	G/C	—	conflicting classifications of pathogenicity
rs761960474	3:189,456,487	A/T	—	uncertain significance
rs750962649	3:189,456,493	C/T	—	uncertain significance
rs368463552	3:189,456,494	G/A	—	likely benign
rs2474134992	3:189,456,515	C/T	—	likely benign
rs2474135006	3:189,456,518	G/A	—	uncertain significance
rs372543100	3:189,456,525	A/G	—	uncertain significance
rs121908848	3:189,456,528	C/T	missense variant	pathogenic
rs752080701	3:189,456,529	G/C	—	pathogenic
rs755677647	3:189,456,541	C/T	—	uncertain significance
rs186864205	3:189,456,542	G/A	—	conflicting classifications of pathogenicity
rs2474135153	3:189,456,552	G/A	—	uncertain significance
rs930341004	3:189,456,570	G/A	—	likely benign
rs1560147651	3:189,456,574	C/T	—	likely benign
rs76191543	3:189,456,639	T/C	—	benign
rs4686525	3:189,456,729	G/C	—	benign
rs77477585	3:189,507,261	G/T	—	benign
rs1515500	3:189,507,318	A/G	—	benign
rs116224653	3:189,507,454	G/C	—	benign
rs77388546	3:189,507,490	T/C	—	likely benign

Showing 100 of 624 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.