MRTFA

myocardin related transcription factor A

Summary

The protein encoded by this gene interacts with the transcription factor myocardin, a key regulator of smooth muscle cell differentiation. The encoded protein is predominantly nuclear and may help transduce signals from the cytoskeleton to the nucleus. This gene is involved in a specific translocation event that creates a fusion of this gene and the RNA-binding motif protein-15 gene. This translocation has been associated with acute megakaryocytic leukemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]

Known Variants606 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs774646318	22:40,807,397	C/T	—	likely benign
rs566222798	22:40,807,412	G/T	—	uncertain significance
rs1400877300	22:40,807,414	G/A	—	uncertain significance
rs764664048	22:40,807,418	C/G	—	uncertain significance
rs2518480031	22:40,807,425	T/C	—	uncertain significance
rs1264231645	22:40,807,427	A/G	—	likely benign
rs148865274	22:40,807,436	G/A	—	likely benign
rs1222007621	22:40,807,439	G/A	—	likely benign
rs754792347	22:40,807,451	G/C	—	uncertain significance
rs781098796	22:40,807,456	G/C	—	uncertain significance
rs748122443	22:40,807,462	G/A	—	uncertain significance
rs941309005	22:40,807,463	G/A	—	likely benign
rs769797935	22:40,807,465	C/T	—	uncertain significance
rs367756208	22:40,807,478	G/C	—	likely benign
rs2517785908	22:40,807,492	G/T	—	uncertain significance
rs775773947	22:40,807,495	C/T	—	uncertain significance
rs558305819	22:40,807,496	G/A	—	likely benign
rs764653388	22:40,807,508	C/T	—	likely benign
rs751291054	22:40,807,519	G/T	—	uncertain significance
rs1353837031	22:40,807,527	A/G	—	uncertain significance
rs781151841	22:40,807,535	C/T	—	likely benign
rs747886632	22:40,807,536	A/T	—	uncertain significance
rs2147047139	22:40,807,554	T/G	—	uncertain significance
rs146530131	22:40,807,562	C/A	—	uncertain significance
rs1326313560	22:40,807,563	A/G	—	uncertain significance
rs773947159	22:40,807,565	G/A	—	likely benign
rs1356620653	22:40,807,577	C/G	—	uncertain significance
rs2517786311	22:40,807,581	G/C	—	uncertain significance
rs2517786319	22:40,807,583	A/G	—	likely benign
rs1489158044	22:40,807,592	C/G	—	uncertain significance
rs570445514	22:40,807,598	C/T	—	benign
rs139977966	22:40,807,599	G/A	—	uncertain significance
rs2517786366	22:40,807,601	G/A	—	likely benign
rs538107883	22:40,807,616	C/T	—	likely benign
rs143437226	22:40,807,617	G/A	—	uncertain significance
rs759268225	22:40,807,621	G/T	—	uncertain significance
rs2517786540	22:40,807,630	G/A	—	likely benign
rs146731409	22:40,807,638	G/A	—	uncertain significance
rs2052542186	22:40,807,654	G/C	—	uncertain significance
rs148866820	22:40,807,666	C/T	—	uncertain significance
rs201298872	22:40,807,667	G/A	—	likely benign
rs1002921495	22:40,807,671	A/G	—	uncertain significance
rs1460053590	22:40,807,687	C/G	—	uncertain significance
rs199562166	22:40,807,694	G/A	—	likely benign
rs769098647	22:40,807,706	G/A	—	likely benign
rs762399447	22:40,807,707	G/A	—	uncertain significance
rs1460727049	22:40,807,721	C/A	—	likely benign
rs2052544709	22:40,807,723	C/A	—	uncertain significance
rs1378448550	22:40,807,724	C/T	—	likely benign
rs774072204	22:40,807,725	G/A	—	uncertain significance
rs1312569808	22:40,807,731	C/T	—	uncertain significance
rs2052545271	22:40,807,739	G/A	—	likely benign
rs2147048001	22:40,807,743	T/C	—	uncertain significance
rs1322782492	22:40,807,751	G/A	—	likely benign
rs759103928	22:40,807,752	C/T	—	uncertain significance
rs575546439	22:40,807,753	G/A	—	uncertain significance
rs763963299	22:40,807,761	A/G	—	uncertain significance
rs753509382	22:40,807,766	G/A	—	likely benign
rs1307181953	22:40,807,772	G/A	—	likely benign
rs757282590	22:40,807,773	C/G	—	uncertain significance
rs2517787286	22:40,807,774	C/T	—	uncertain significance
rs760670654	22:40,807,784	T/A	—	likely benign
rs2517787424	22:40,807,795	G/T	—	uncertain significance
rs573371931	22:40,807,798	G/A	—	uncertain significance
rs41276311	22:40,807,799	G/A	—	likely benign
rs1309351773	22:40,807,801	G/A	—	uncertain significance
rs748457347	22:40,807,806	G/A	—	uncertain significance
rs770481742	22:40,807,819	G/A	—	conflicting classifications of pathogenicity
rs2147048431	22:40,807,822	G/T	—	uncertain significance
rs1422208823	22:40,807,831	G/A	—	likely benign
rs745413434	22:40,807,832	G/T	—	likely benign
rs2147048514	22:40,807,833	G/A	—	uncertain significance
rs774803635	22:40,807,836	G/C	—	uncertain significance
rs2517787747	22:40,807,841	A/G	—	likely benign
rs763649046	22:40,807,845	A/G	—	uncertain significance
rs776543354	22:40,807,847	T/G	—	likely benign
rs371656671	22:40,807,853	C/T	—	likely benign
rs750388772	22:40,807,854	G/A	—	uncertain significance
rs921747128	22:40,807,857	G/A	—	uncertain significance
rs2517787945	22:40,807,861	G/A	—	uncertain significance
rs1289778291	22:40,807,876	G/A	—	uncertain significance
rs754100449	22:40,807,886	C/T	—	likely benign
rs374851752	22:40,807,887	G/A	—	uncertain significance
rs200338788	22:40,807,902	G/A	—	uncertain significance
rs771497650	22:40,807,907	A/G	—	likely benign
rs1178870563	22:40,807,915	C/T	—	likely benign
rs1430006565	22:40,807,918	A/G	—	likely benign
rs368398990	22:40,807,921	A/G	—	likely benign
rs1358526464	22:40,807,923	T/C	—	likely benign
rs2052555301	22:40,807,927	G/C	—	likely benign
rs765041655	22:40,807,931	G/A	—	likely benign
rs729982	22:40,810,946	T/C	regulatory region variant	—
rs574490753	22:40,812,972	C/T	—	likely benign
rs1212782726	22:40,812,993	C/T	—	uncertain significance
rs141926991	22:40,812,994	G/A	—	likely benign
rs1183543996	22:40,813,003	G/A	—	likely benign
rs769372093	22:40,813,020	C/T	—	uncertain significance
rs140747739	22:40,813,021	G/A	—	likely benign
rs2052694822	22:40,813,034	C/T	—	uncertain significance
rs1184317192	22:40,813,064	G/A	—	likely benign

Showing 100 of 606 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.