TP53BP1

tumor protein p53 binding protein 1

Summary

This gene encodes a protein that functions in the DNA double-strand break repair pathway choice, promoting non-homologous end joining (NHEJ) pathways, and limiting homologous recombination. This protein plays multiple roles in the DNA damage response, including promoting checkpoint signaling following DNA damage, acting as a scaffold for recruitment of DNA damage response proteins to damaged chromatin, and promoting NHEJ pathways by limiting end resection following a double-strand break. These roles are also important during V(D)J recombination, class switch recombination and at unprotected telomeres. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2017]

Known Variants95 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs200092283	15:43,695,895	G/T	synonymous variant	pathogenic
rs2543140263	15:43,699,702	C/T	—	uncertain significance
rs143175833	15:43,699,754	C/T	—	uncertain significance
rs1225165815	15:43,699,762	G/C	—	uncertain significance
rs199724544	15:43,700,191	G/C	—	likely benign
rs61757239	15:43,701,205	A/G	—	likely benign
rs2142944572	15:43,701,941	T/C	—	uncertain significance
rs750512252	15:43,705,331	C/A	—	uncertain significance
rs2543185050	15:43,705,358	T/A	—	uncertain significance
rs140689367	15:43,705,365	G/A	—	likely benign
rs757096598	15:43,705,457	T/A	—	uncertain significance
rs762119718	15:43,705,506	T/A	—	uncertain significance
rs368286247	15:43,705,523	C/A	—	uncertain significance
rs766148636	15:43,707,885	T/C	—	uncertain significance
rs2543205435	15:43,708,544	C/A	—	uncertain significance
rs146431821	15:43,712,646	C/T	—	uncertain significance
rs33916441	15:43,712,852	G/A	—	benign
rs2230448	15:43,712,876	T/C	—	benign
rs778456993	15:43,712,896	T/C	—	uncertain significance
rs200611664	15:43,712,914	G/C	—	uncertain significance
rs1333471277	15:43,712,928	G/A	—	uncertain significance
rs200691218	15:43,713,277	G/A	—	likely benign
rs2142992080	15:43,714,052	C/T	—	uncertain significance
rs139105949	15:43,714,099	C/T	—	uncertain significance
rs764634218	15:43,714,107	G/A	—	uncertain significance
rs540894780	15:43,714,202	T/A	—	uncertain significance
rs775000251	15:43,714,254	G/A	—	uncertain significance
rs372281177	15:43,720,281	A/C	—	uncertain significance
rs749007329	15:43,720,327	G/T	—	uncertain significance
rs2543278204	15:43,724,415	C/T	—	uncertain significance
rs763158702	15:43,724,436	G/A	—	uncertain significance
rs761616475	15:43,724,624	A/G	—	uncertain significance
rs2602141	15:43,724,646	T/A	stop gained	—
rs1459759154	15:43,724,697	C/T	—	uncertain significance
rs753263851	15:43,724,808	T/G	—	uncertain significance
rs147001430	15:43,730,537	G/A	—	uncertain significance
rs965818216	15:43,730,549	C/A	—	uncertain significance
rs770769274	15:43,730,565	C/T	—	uncertain significance
rs61758077	15:43,733,727	G/A	—	uncertain significance
rs942047167	15:43,733,767	C/G	—	uncertain significance
rs374254249	15:43,738,599	T/C	—	uncertain significance
rs749855159	15:43,738,716	T/C	—	uncertain significance
rs2543362832	15:43,738,730	C/T	—	uncertain significance
rs139521222	15:43,739,585	T/C	—	uncertain significance
rs546609337	15:43,739,687	A/G	—	likely benign
rs755388275	15:43,748,100	T/G	—	uncertain significance
rs774687315	15:43,748,278	A/C	—	uncertain significance
rs768084010	15:43,748,432	A/G	—	uncertain significance
rs150010105	15:43,748,439	G/C	—	benign
rs2046294246	15:43,748,477	A/G	—	uncertain significance
rs200924195	15:43,748,479	G/A	—	uncertain significance
rs28903075	15:43,748,556	A/T	—	likely benign
rs904978985	15:43,748,623	A/T	—	uncertain significance
rs2543400485	15:43,748,686	C/G	—	uncertain significance
rs34823068	15:43,748,695	T/C	—	benign
rs2543400615	15:43,748,735	T/C	—	uncertain significance
rs2543400905	15:43,748,847	C/T	—	uncertain significance
rs141222111	15:43,748,962	G/A	—	likely benign
rs767229618	15:43,748,968	T/C	—	uncertain significance
rs377298940	15:43,748,993	A/T	—	uncertain significance
rs757622639	15:43,748,999	T/A	—	uncertain significance
rs779102808	15:43,749,002	T/C	—	uncertain significance
rs558975655	15:43,749,004	T/C	—	uncertain significance
rs370597045	15:43,749,037	T/C	—	uncertain significance
rs763033685	15:43,749,052	C/T	—	likely benign
rs375307208	15:43,749,079	G/A	—	uncertain significance
rs115849551	15:43,749,149	T/C	—	benign
rs371845645	15:43,749,290	G/A	—	uncertain significance
rs1595579789	15:43,749,294	A/G	—	likely benign
rs9920763	15:43,760,508	T/A	—	—
rs142598945	15:43,762,079	G/C	—	uncertain significance
rs748984816	15:43,762,151	T/G	—	uncertain significance
rs745378899	15:43,762,168	G/T	—	uncertain significance
rs689647	15:43,762,196	C/T	missense variant	—
rs775472310	15:43,762,252	T/C	—	uncertain significance
rs760477489	15:43,762,256	T/C	—	uncertain significance
rs750254905	15:43,766,908	G/C	—	uncertain significance
rs1189272860	15:43,766,930	G/C	—	uncertain significance
rs749691200	15:43,766,937	G/A	—	uncertain significance
rs116252997	15:43,767,763	G/A	—	likely benign
rs560191	15:43,767,774	G/T	missense variant	—
rs35329973	15:43,767,861	C/T	—	benign
rs2504487298	15:43,767,869	G/T	—	uncertain significance
rs748207825	15:43,769,805	T/C	—	uncertain significance
rs61751060	15:43,769,851	A/G	—	likely benign
rs374363609	15:43,769,877	A/G	—	likely benign
rs200419374	15:43,769,931	T/C	—	uncertain significance
rs2504511920	15:43,771,601	G/C	—	uncertain significance
rs755758138	15:43,771,703	G/T	—	uncertain significance
rs2504513358	15:43,771,718	T/C	—	uncertain significance
rs139186328	15:43,772,082	C/G	—	uncertain significance
rs2504524759	15:43,773,177	C/T	—	uncertain significance
rs1194581548	15:43,783,909	C/T	—	uncertain significance
rs762372277	15:43,784,531	A/G	—	uncertain significance
rs763465325	15:43,784,544	G/A	—	uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.