MAF

MAF bZIP transcription factor

Summary

The protein encoded by this gene is a DNA-binding, leucine zipper-containing transcription factor that acts as a homodimer or as a heterodimer. Depending on the binding site and binding partner, the encoded protein can be a transcriptional activator or repressor. This protein plays a role in the regulation of several cellular processes, including embryonic lens fiber cell development, increased T-cell susceptibility to apoptosis, and chondrocyte terminal differentiation. Defects in this gene are a cause of juvenile-onset pulverulent cataract as well as congenital cerulean cataract 4 (CCA4). Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2010]

Known Variants146 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs11861007	16:79,238,685	C/T	intron variant	—
rs587777127	16:79,245,562	G/A	missense variant	uncertain significance
rs1064793798	16:79,245,563	G/A	missense variant	uncertain significance
rs73569323	16:79,245,765	C/T	downstream gene variant	benign
rs383362	16:79,245,820	G/T	downstream gene variant	benign
rs2288034	16:79,245,956	C/G	downstream gene variant	benign
rs2288033	16:79,245,961	T/C	downstream gene variant	benign
rs12828	16:79,246,323	G/A	downstream gene variant	—
rs34736485	16:79,272,611	G/T	intergenic variant	—
rs7191820	16:79,363,814	A/T	—	—
rs17797882	16:79,406,918	C/G	—	—
rs9931557	16:79,411,669	G/A	—	—
rs4888966	16:79,431,853	G/T	—	—
rs4888024	16:79,439,374	A/G	intergenic variant	—
rs578245044	16:79,499,879	T/C	—	—
rs2549497	16:79,510,377	G/C	intergenic variant	—
rs2549513	16:79,550,727	C/A	downstream gene variant	—
rs821235	16:79,569,479	T/G	—	—
rs7498403	16:79,585,021	C/G	—	—
rs434626	16:79,606,520	C/T	intergenic variant	—
rs188289522	16:79,606,823	G/A	—	—
rs398465	16:79,608,831	G/C	intergenic variant	—
rs113194286	16:79,626,236	C/T	—	—
rs78847445	16:79,628,138	C/G	—	likely benign
rs30412	16:79,628,172	G/C	—	benign
rs2287974	16:79,628,181	C/T	—	benign
rs149118803	16:79,628,390	C/T	—	likely benign
rs1239219565	16:79,628,431	A/T	—	uncertain significance
rs2507621799	16:79,628,432	C/T	—	uncertain significance
rs752338390	16:79,628,437	G/T	—	uncertain significance
rs1027103137	16:79,628,452	T/C	—	uncertain significance
rs2507622046	16:79,628,462	A/G	—	likely benign
rs143565138	16:79,628,629	G/A	—	likely benign
rs1046958	16:79,632,465	A/G	—	benign
rs73587071	16:79,632,615	A/G	—	likely benign
rs12919670	16:79,632,646	T/A	—	likely benign
rs775799498	16:79,632,690	C/G	—	uncertain significance
rs1324944285	16:79,632,750	C/T	—	uncertain significance
rs1913768733	16:79,632,763	T/C	—	uncertain significance
rs201126542	16:79,632,772	G/A	—	benign
rs1913772669	16:79,632,791	G/A	—	likely benign
rs2507653847	16:79,632,816	G/C	—	uncertain significance
rs2507654121	16:79,632,841	T/C	—	uncertain significance
rs765806184	16:79,632,858	G/A	—	likely benign
rs1913779276	16:79,632,859	T/G	—	likely pathogenic
rs1231719173	16:79,632,861	T/C	—	likely benign
rs2507654398	16:79,632,865	T/C	—	uncertain significance
rs2507654561	16:79,632,878	T/C	—	uncertain significance
rs1913781557	16:79,632,884	G/C	—	pathogenic
rs864309692	16:79,632,885	G/A	synonymous variant	pathogenic
rs1913782042	16:79,632,886	C/A	—	likely pathogenic
rs786205222	16:79,632,892	T/G	missense variant	pathogenic
rs1481963503	16:79,632,895	G/A	—	pathogenic
rs2507654850	16:79,632,898	T/C	—	uncertain significance
rs2507654866	16:79,632,901	C/T	—	uncertain significance
rs2143800672	16:79,632,902	C/T	—	uncertain significance
rs1199556915	16:79,632,903	G/A	—	likely benign
rs786205221	16:79,632,905	G/A	missense variant	pathogenic
rs2507654983	16:79,632,906	G/T	—	uncertain significance
rs2507655006	16:79,632,908	T/G	—	uncertain significance
rs121917736	16:79,632,910	T/C	missense variant	pathogenic
rs1913784440	16:79,632,913	A/G	—	uncertain significance
rs140303158	16:79,632,918	C/T	—	likely benign
rs1597847611	16:79,632,919	C/T	—	pathogenic
rs864309695	16:79,632,920	G/A	missense variant	pathogenic
rs2143800981	16:79,632,929	G/C	—	likely pathogenic
rs777544349	16:79,632,934	A/T	—	uncertain significance
rs749330861	16:79,632,936	C/T	—	likely benign
rs121917735	16:79,632,937	C/G	missense variant	pathogenic
rs774933231	16:79,632,938	G/C	—	uncertain significance
rs139380519	16:79,632,939	G/A	—	likely benign
rs772989511	16:79,632,940	A/C	—	uncertain significance
rs539852214	16:79,632,972	C/T	—	likely benign
rs1251371757	16:79,632,973	C/G	—	uncertain significance
rs2143802140	16:79,632,980	G/C	—	uncertain significance
rs864309678	16:79,632,981	C/G	missense variant	pathogenic
rs2143802343	16:79,632,990	A/C	—	likely benign
rs2143802492	16:79,633,003	A/C	—	uncertain significance
rs1555529827	16:79,633,032	G/C	—	uncertain significance
rs764719107	16:79,633,040	C/G	—	uncertain significance
rs764041224	16:79,633,057	G/T	—	uncertain significance
rs1423244186	16:79,633,069	C/A	—	uncertain significance
rs1348434035	16:79,633,074	C/A	—	likely benign
rs561314990	16:79,633,085	C/T	—	likely benign
rs1764753196	16:79,633,088	C/A	—	uncertain significance
rs779108045	16:79,633,098	T/G	—	likely benign
rs1193982100	16:79,633,101	G/T	—	likely benign
rs868331592	16:79,633,104	G/T	—	likely benign
rs1210195937	16:79,633,105	C/A	—	conflicting classifications of pathogenicity
rs1030258012	16:79,633,145	C/T	—	uncertain significance
rs977933498	16:79,633,151	C/T	—	likely benign
rs1316735017	16:79,633,156	C/T	—	uncertain significance
rs957401703	16:79,633,159	C/G	—	benign
rs2143807403	16:79,633,179	G/T	—	likely benign
rs2143807424	16:79,633,181	C/A	—	likely benign
rs867401075	16:79,633,189	C/A	—	benign
rs1373611152	16:79,633,190	C/T	—	uncertain significance
rs1206789868	16:79,633,196	C/T	—	uncertain significance
rs2507660679	16:79,633,202	G/T	—	uncertain significance
rs866444177	16:79,633,206	G/A	—	likely benign

Showing 100 of 146 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.