BRD4

bromodomain containing 4

Summary

The protein encoded by this gene is homologous to the murine protein MCAP, which associates with chromosomes during mitosis, and to the human RING3 protein, a serine/threonine kinase. Each of these proteins contains two bromodomains, a conserved sequence motif which may be involved in chromatin targeting. This gene has been implicated as the chromosome 19 target of translocation t(15;19)(q13;p13.1), which defines an upper respiratory tract carcinoma in young people. Two alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2008]

Known Variants537 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs201354263	19:15,349,197	A/G	—	likely benign
rs912468726	19:15,349,211	T/C	—	uncertain significance
rs146914097	19:15,349,218	T/C	—	likely benign
rs2512702163	19:15,349,244	T/C	—	uncertain significance
rs2047211168	19:15,349,269	G/A	—	likely benign
rs899942913	19:15,349,543	T/A	—	likely benign
rs200578182	19:15,349,545	C/A	—	benign
rs2145497734	19:15,349,553	C/T	—	pathogenic
rs201443971	19:15,349,596	C/A	—	benign
rs371743668	19:15,349,608	G/A	—	likely benign
rs763138973	19:15,349,623	G/A	—	likely benign
rs2047213875	19:15,349,627	T/A	—	uncertain significance
rs1019342567	19:15,349,641	C/T	—	likely benign
rs2047214042	19:15,349,643	G/C	—	uncertain significance
rs61740415	19:15,349,647	G/A	—	benign
rs755041038	19:15,349,649	T/C	—	uncertain significance
rs1290799248	19:15,349,653	G/A	—	likely benign
rs748234502	19:15,349,655	C/T	—	uncertain significance
rs772586063	19:15,349,695	T/C	—	likely benign
rs767464916	19:15,349,706	G/A	—	uncertain significance
rs2047215023	19:15,349,707	C/T	—	likely benign
rs112476530	19:15,349,716	C/T	—	likely benign
rs750347317	19:15,349,730	G/A	—	uncertain significance
rs754054879	19:15,349,733	G/A	—	uncertain significance
rs200422251	19:15,349,752	C/T	—	likely benign
rs2047215777	19:15,349,757	G/A	—	uncertain significance
rs201420374	19:15,349,760	C/T	—	uncertain significance
rs113881069	19:15,349,764	C/G	—	likely benign
rs773921792	19:15,349,779	G/A	—	likely benign
rs183321935	19:15,349,861	C/T	—	likely benign
rs759358078	19:15,349,886	G/A	—	uncertain significance
rs141774763	19:15,349,909	G/A	—	likely benign
rs367944319	19:15,349,911	G/A	—	likely benign
rs1226412060	19:15,349,916	C/T	—	uncertain significance
rs201209267	19:15,349,917	G/A	—	likely benign
rs1482665504	19:15,349,931	G/A	—	likely benign
rs2512703957	19:15,349,932	G/C	—	likely benign
rs118000160	19:15,349,962	G/A	—	likely benign
rs775209814	19:15,349,965	G/A	—	likely benign
rs148010154	19:15,349,971	G/A	—	likely benign
rs745807590	19:15,349,979	C/T	—	uncertain significance
rs775138875	19:15,349,988	C/T	—	uncertain significance
rs867367622	19:15,349,989	G/A	—	likely benign
rs1298800516	19:15,350,005	G/A	—	uncertain significance
rs1461157477	19:15,350,016	G/A	—	likely benign
rs200270814	19:15,350,022	C/T	—	likely benign
rs766976215	19:15,350,049	G/A	—	likely benign
rs945737822	19:15,350,058	G/A	—	likely benign
rs141704077	19:15,350,064	G/T	—	likely benign
rs2512704242	19:15,350,065	A/G	—	uncertain significance
rs2512704518	19:15,350,183	C/A	—	likely benign
rs199836962	19:15,350,185	A/T	—	likely benign
rs200733287	19:15,350,200	A/G	—	likely benign
rs201932061	19:15,350,212	C/T	—	likely benign
rs368540009	19:15,350,213	G/A	—	uncertain significance
rs200524798	19:15,350,257	G/T	—	benign
rs760622695	19:15,350,270	G/A	—	uncertain significance
rs138397884	19:15,350,275	G/A	—	likely benign
rs753110356	19:15,350,278	C/G	—	uncertain significance
rs763454979	19:15,350,281	C/T	—	likely benign
rs767260149	19:15,350,287	G/A	—	likely benign
rs141513213	19:15,350,290	C/T	—	benign
rs549332236	19:15,350,302	C/T	—	likely benign
rs1281943471	19:15,350,306	C/T	—	uncertain significance
rs201012197	19:15,350,308	G/A	—	likely benign
rs202193292	19:15,350,329	C/T	—	likely benign
rs200185869	19:15,350,343	A/G	—	likely benign
rs1347205051	19:15,350,350	C/T	—	likely benign
rs59758739	19:15,350,351	G/A	—	benign
rs60057301	19:15,350,367	C/T	—	benign
rs1599429491	19:15,350,462	G/A	—	likely benign
rs200957651	19:15,350,485	C/T	—	likely benign
rs199544374	19:15,350,489	G/A	—	benign
rs762435043	19:15,350,495	G/A	—	likely benign
rs553993519	19:15,350,511	T/C	—	uncertain significance
rs1428391976	19:15,350,519	C/G	—	uncertain significance
rs200095218	19:15,350,522	C/T	—	likely benign
rs1370534388	19:15,350,523	G/A	—	uncertain significance
rs200703650	19:15,350,526	C/T	—	uncertain significance
rs779410862	19:15,350,531	C/T	—	likely benign
rs772431443	19:15,350,548	C/T	—	uncertain significance
rs573909313	19:15,350,549	G/A	—	likely benign
rs199839337	19:15,350,554	G/A	—	conflicting classifications of pathogenicity
rs187907043	19:15,350,579	C/T	—	benign
rs920724739	19:15,350,587	C/A	—	likely benign
rs11669901	19:15,350,594	G/A	—	benign
rs35676845	19:15,350,625	C/T	—	likely benign
rs1234699192	19:15,350,626	G/A	—	uncertain significance
rs2047224397	19:15,350,641	G/A	—	likely benign
rs757629079	19:15,350,644	C/T	—	likely benign
rs2512705880	19:15,350,648	C/T	—	likely benign
rs1453918874	19:15,350,702	G/A	—	likely benign
rs2512706092	19:15,350,719	A/G	—	likely pathogenic
rs567489459	19:15,350,738	C/T	—	uncertain significance
rs1435266374	19:15,350,771	T/C	—	uncertain significance
rs2145502969	19:15,350,773	T/C	—	uncertain significance
rs144097229	19:15,350,781	T/G	—	likely benign
rs2512706331	19:15,350,811	G/C	—	likely benign
rs1474361929	19:15,350,814	G/A	—	likely benign
rs376613701	19:15,350,823	G/C	—	likely benign

Showing 100 of 537 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.