BAZ2B

bromodomain adjacent to zinc finger domain 2B

Summary

This gene belongs to the bromodomain gene family. Members of this gene family encode proteins that are integral components of chromatin remodeling complexes. The encoded protein showed strong preference for the activating H3K14Ac mark in a histone peptide screen, suggesting a potential role in transcriptional activation. This gene may be associated with susceptibility to sudden cardiac death (SCD). [provided by RefSeq, Aug 2016]

Known Variants218 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs174230	2:160,175,310	T/G	—	—
rs2471016003	2:160,181,358	T/C	—	uncertain significance
rs766990267	2:160,181,377	C/T	—	uncertain significance
rs188090321	2:160,181,398	G/A	—	benign
rs1226362424	2:160,181,419	G/C	—	uncertain significance
rs371273841	2:160,181,429	T/C	—	likely benign
rs2063241999	2:160,181,468	A/G	—	uncertain significance
rs751028727	2:160,182,173	G/A	—	uncertain significance
rs752949386	2:160,182,191	T/C	—	uncertain significance
rs760948242	2:160,182,198	T/C	—	uncertain significance
rs2063623996	2:160,182,239	T/G	—	uncertain significance
rs415793	2:160,182,302	T/C	—	benign
rs549709911	2:160,182,308	G/T	—	likely benign
rs369418579	2:160,182,325	A/T	—	uncertain significance
rs1479160161	2:160,182,332	G/T	—	uncertain significance
rs376860541	2:160,182,373	A/G	—	likely benign
rs200299773	2:160,182,377	G/C	—	likely benign
rs2471104310	2:160,182,400	T/G	—	uncertain significance
rs752973427	2:160,189,059	T/C	—	uncertain significance
rs1558979342	2:160,189,105	G/C	—	likely benign
rs192910254	2:160,189,156	A/C	—	likely benign
rs1302664223	2:160,189,169	T/A	—	uncertain significance
rs2471337904	2:160,189,198	C/G	—	likely pathogenic
rs4665058	2:160,190,209	A/T	—	—
rs2148967559	2:160,193,475	C/T	—	uncertain significance
rs764634991	2:160,193,486	T/A	—	uncertain significance
rs370717896	2:160,193,530	G/A	—	likely benign
rs2471520062	2:160,194,126	T/G	—	uncertain significance
rs1166745502	2:160,194,139	C/T	—	uncertain significance
rs369574240	2:160,194,172	C/T	—	likely benign
rs372780494	2:160,194,178	C/T	—	uncertain significance
rs202012948	2:160,194,206	G/C	—	likely benign
rs201634510	2:160,194,292	C/G	—	likely benign
rs2471892423	2:160,204,032	C/G	—	uncertain significance
rs116085584	2:160,204,038	C/T	—	likely benign
rs2068088987	2:160,204,068	T/C	—	uncertain significance
rs2068094640	2:160,204,102	C/T	—	likely benign
rs765312651	2:160,204,106	A/G	—	uncertain significance
rs370048337	2:160,204,112	C/T	—	uncertain significance
rs2058239460	2:160,205,192	C/A	—	uncertain significance
rs768935302	2:160,205,199	C/A	—	uncertain significance
rs913743342	2:160,205,206	C/T	—	uncertain significance
rs2471962971	2:160,205,261	C/A	—	likely benign
rs749478861	2:160,205,317	A/G	—	likely benign
rs11679175	2:160,205,324	T/G	—	likely benign
rs73967821	2:160,205,353	A/G	—	benign
rs781214900	2:160,205,530	G/A	—	uncertain significance
rs2471982278	2:160,205,542	G/C	—	uncertain significance
rs2471985422	2:160,205,602	T/C	—	uncertain significance
rs1575883384	2:160,205,619	T/A	—	pathogenic
rs2471987310	2:160,205,631	G/A	—	uncertain significance
rs2471988095	2:160,205,643	G/A	—	uncertain significance
rs34949465	2:160,205,691	C/G	—	likely benign
rs2471991905	2:160,205,719	G/T	—	uncertain significance
rs34745357	2:160,205,779	C/G	—	likely benign
rs16843906	2:160,206,214	C/T	—	benign
rs2472027654	2:160,206,328	G/A	—	uncertain significance
rs762892574	2:160,206,367	G/T	—	uncertain significance
rs2472034351	2:160,206,439	A/G	—	uncertain significance
rs200214529	2:160,206,448	T/C	—	likely benign
rs201952468	2:160,206,453	G/A	—	likely benign
rs774338485	2:160,206,468	C/G	—	uncertain significance
rs2058379681	2:160,206,476	G/T	—	uncertain significance
rs776614508	2:160,206,526	T/C	—	uncertain significance
rs1444509662	2:160,206,535	G/A	—	uncertain significance
rs143966878	2:160,206,574	C/T	—	likely benign
rs375978952	2:160,206,592	G/A	—	uncertain significance
rs562144780	2:160,206,616	G/A	—	likely benign
rs201077550	2:160,206,638	A/G	—	likely benign
rs373255448	2:160,206,650	T/C	—	likely benign
rs2058402191	2:160,206,662	C/G	—	uncertain significance
rs147334374	2:160,206,669	C/G	—	likely benign
rs2472049846	2:160,206,683	A/G	—	uncertain significance
rs746852663	2:160,206,721	T/A	—	uncertain significance
rs371109697	2:160,206,727	T/C	—	uncertain significance
rs960071828	2:160,206,768	A/G	—	likely benign
rs373398746	2:160,206,800	T/C	—	uncertain significance
rs201028872	2:160,206,863	C/G	—	likely benign
rs111452220	2:160,213,894	T/G	intron variant	—
rs2061024668	2:160,229,555	C/T	—	uncertain significance
rs370634481	2:160,229,619	G/C	—	uncertain significance
rs764609647	2:160,229,666	G/C	—	uncertain significance
rs1261694002	2:160,229,689	C/G	—	uncertain significance
rs2149427953	2:160,231,206	C/T	—	uncertain significance
rs2061235288	2:160,231,239	A/G	—	uncertain significance
rs7565063	2:160,238,109	A/T	upstream gene variant	—
rs369373868	2:160,239,083	A/G	—	conflicting classifications of pathogenicity
rs117569106	2:160,239,116	T/A	—	benign
rs2546006250	2:160,239,165	C/T	—	uncertain significance
rs373486810	2:160,239,206	C/T	—	uncertain significance
rs141120127	2:160,239,298	A/G	—	likely benign
rs374620054	2:160,239,312	G/A	—	uncertain significance
rs2546026249	2:160,240,180	T/C	—	uncertain significance
rs191861989	2:160,240,195	C/T	—	likely benign
rs1411735954	2:160,241,735	G/A	—	uncertain significance
rs375524388	2:160,241,802	T/C	—	uncertain significance
rs201198370	2:160,241,834	C/T	—	uncertain significance
rs889369795	2:160,241,880	C/T	—	uncertain significance
rs374468671	2:160,242,869	A/G	—	uncertain significance
rs367772317	2:160,242,897	A/G	—	likely benign

Showing 100 of 218 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.