MBD4

methyl-CpG binding domain 4, DNA glycosylase

Summary

The protein encoded by this gene is a member of a family of nuclear proteins related by the presence of a methyl-CpG binding domain (MBD). These proteins are capable of binding specifically to methylated DNA, and some members can also repress transcription from methylated gene promoters. This protein contains an MBD domain at the N-terminus that functions both in binding to methylated DNA and in protein interactions and a C-terminal mismatch-specific glycosylase domain that is involved in DNA repair. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Jan 2013]

Known Variants324 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs766926424	3:129,150,353	A/C	—	uncertain significance
rs2530690733	3:129,150,365	A/G	—	likely benign
rs370417942	3:129,150,366	T/C	—	uncertain significance
rs939751619	3:129,150,381	C/T	—	uncertain significance
rs1223685483	3:129,150,383	G/A	—	likely benign
rs2307293	3:129,150,385	C/G	—	conflicting classifications of pathogenicity
rs1355254950	3:129,150,387	T/C	—	uncertain significance
rs866885944	3:129,150,388	G/A	—	uncertain significance
rs2530690906	3:129,150,390	T/C	—	uncertain significance
rs752818326	3:129,150,392	T/C	—	likely benign
rs200758755	3:129,150,399	A/T	—	pathogenic
rs777650629	3:129,150,402	T/C	—	uncertain significance
rs2530691182	3:129,150,431	A/G	—	uncertain significance
rs757249272	3:129,150,433	A/G	—	uncertain significance
rs781346153	3:129,150,438	A/C	—	uncertain significance
rs2530691254	3:129,150,439	T/C	—	likely benign
rs745627751	3:129,150,441	C/G	—	likely benign
rs3138363	3:129,150,594	A/C	—	benign
rs2072364498	3:129,151,286	G/A	—	likely benign
rs961644660	3:129,151,326	T/C	—	likely benign
rs945366039	3:129,151,330	T/C	—	likely benign
rs764602863	3:129,151,333	G/C	—	likely benign
rs2107748939	3:129,151,335	G/A	—	likely benign
rs1300493197	3:129,151,343	C/T	—	uncertain significance
rs779654395	3:129,151,356	T/A	—	uncertain significance
rs749164308	3:129,151,357	C/T	—	uncertain significance
rs2530696123	3:129,151,358	A/G	—	likely benign
rs577234840	3:129,151,359	T/C	—	uncertain significance
rs747631084	3:129,151,368	A/G	—	uncertain significance
rs772744105	3:129,151,375	G/A	—	pathogenic
rs959552533	3:129,151,379	A/G	—	likely benign
rs2530696368	3:129,151,382	G/A	—	likely benign
rs763443232	3:129,151,391	A/G	—	likely benign
rs2005619	3:129,151,403	C/T	—	benign
rs1233444470	3:129,151,407	T/C	—	uncertain significance
rs1448099000	3:129,151,416	A/G	—	uncertain significance
rs183820888	3:129,151,417	T/C	—	conflicting classifications of pathogenicity
rs1183301238	3:129,151,419	G/A	—	uncertain significance
rs2530696734	3:129,151,424	C/G	—	uncertain significance
rs2072370617	3:129,151,438	T/G	—	uncertain significance
rs2072371010	3:129,151,448	A/T	—	uncertain significance
rs778697654	3:129,151,450	C/A	—	pathogenic
rs2072371321	3:129,151,455	G/A	—	likely benign
rs2530697303	3:129,151,456	A/G	—	likely benign
rs747763175	3:129,151,466	C/G	—	likely benign
rs2005618	3:129,151,667	A/G	upstream gene variant	benign
rs760845433	3:129,151,924	G/C	—	likely benign
rs140697	3:129,151,927	G/A	—	benign
rs753755351	3:129,151,930	T/C	—	likely benign
rs2530700075	3:129,151,931	A/T	—	likely benign
rs1435488568	3:129,151,936	A/G	—	uncertain significance
rs138445306	3:129,151,949	T/C	—	uncertain significance
rs1190213005	3:129,151,951	G/C	—	likely benign
rs2530700294	3:129,151,958	G/A	—	uncertain significance
rs909072844	3:129,151,966	C/T	—	likely benign
rs758035705	3:129,151,967	C/T	—	conflicting classifications of pathogenicity
rs1381175027	3:129,151,968	G/C	—	uncertain significance
rs1457574009	3:129,151,974	C/G	—	uncertain significance
rs777551148	3:129,151,975	G/A	—	likely benign
rs2530700419	3:129,151,976	T/C	—	uncertain significance
rs2530700488	3:129,151,983	C/G	—	uncertain significance
rs751003937	3:129,151,989	G/T	—	uncertain significance
rs1427550635	3:129,151,990	T/C	—	likely benign
rs374206466	3:129,152,005	C/T	—	likely benign
rs780590478	3:129,152,006	A/G	—	uncertain significance
rs749745357	3:129,152,012	C/G	—	uncertain significance
rs897132425	3:129,152,015	C/T	—	pathogenic
rs368537488	3:129,152,022	C/A	—	uncertain significance
rs748588609	3:129,152,023	G/A	—	likely benign
rs2530700773	3:129,152,028	T/G	—	likely benign
rs1056697984	3:129,152,033	A/G	—	uncertain significance
rs772389783	3:129,152,037	C/A	—	pathogenic
rs2072388817	3:129,152,049	A/C	—	uncertain significance
rs2530700920	3:129,152,060	A/T	—	uncertain significance
rs2107750184	3:129,152,063	T/G	—	uncertain significance
rs760825888	3:129,152,064	T/G	—	uncertain significance
rs372098226	3:129,152,071	C/T	—	likely benign
rs140696	3:129,152,089	G/A	—	benign
rs751175545	3:129,152,105	T/G	—	likely benign
rs140695	3:129,152,144	T/C	—	benign
rs3138355	3:129,152,230	C/T	upstream gene variant	benign
rs3138353	3:129,152,584	C/T	—	benign
rs2530704321	3:129,152,673	G/T	—	likely benign
rs2530704328	3:129,152,675	T/C	—	likely benign
rs2530704343	3:129,152,676	G/C	—	likely benign
rs1172744855	3:129,152,691	A/G	—	conflicting classifications of pathogenicity
rs769691633	3:129,152,699	T/C	—	uncertain significance
rs1380952147	3:129,152,702	G/A	—	uncertain significance
rs78782061	3:129,152,704	T/C	—	conflicting classifications of pathogenicity
rs527715494	3:129,152,714	T/C	—	uncertain significance
rs762115445	3:129,152,720	C/T	—	uncertain significance
rs201776693	3:129,152,721	G/A	—	uncertain significance
rs766007056	3:129,152,724	G/A	—	conflicting classifications of pathogenicity
rs373984872	3:129,152,736	T/C	—	likely benign
rs1261225248	3:129,152,743	T/C	—	uncertain significance
rs893067080	3:129,152,747	A/G	—	uncertain significance
rs2530704828	3:129,152,749	A/C	—	uncertain significance
rs948070065	3:129,152,751	T/G	—	likely benign
rs1173391900	3:129,152,763	G/A	—	likely benign
rs1412146039	3:129,152,773	G/C	—	uncertain significance

Showing 100 of 324 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.