DNM1

dynamin 1

Summary

This gene encodes a member of the dynamin subfamily of GTP-binding proteins. The encoded protein possesses unique mechanochemical properties used to tubulate and sever membranes, and is involved in clathrin-mediated endocytosis and other vesicular trafficking processes. Actin and other cytoskeletal proteins act as binding partners for the encoded protein, which can also self-assemble leading to stimulation of GTPase activity. More than sixty highly conserved copies of the 3' region of this gene are found elsewhere in the genome, particularly on chromosomes Y and 15. Alternatively spliced transcript variants encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Known Variants743 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4240427	9:130,965,539	A/G	—	benign
rs778217684	9:130,965,715	C/T	—	likely benign
rs1057522152	9:130,965,717	G/A	—	likely benign
rs373766853	9:130,965,723	T/G	—	likely benign
rs368835504	9:130,965,733	C/A	—	benign
rs376941388	9:130,965,735	G/T	—	likely benign
rs928532911	9:130,965,737	G/A	—	likely benign
rs1588293610	9:130,965,751	T/C	—	uncertain significance
rs1401701364	9:130,965,752	G/T	—	likely benign
rs1833612492	9:130,965,755	C/T	—	benign
rs1833612913	9:130,965,760	G/A	—	uncertain significance
rs759483040	9:130,965,762	G/A	—	uncertain significance
rs1833613277	9:130,965,763	G/T	—	uncertain significance
rs1157955248	9:130,965,782	G/A	—	likely benign
rs1382648008	9:130,965,783	C/A	—	uncertain significance
rs969698049	9:130,965,787	T/C	—	uncertain significance
rs1320569379	9:130,965,792	C/G	—	uncertain significance
rs763288862	9:130,965,793	G/A	—	conflicting classifications of pathogenicity
rs61757224	9:130,965,795	C/A	—	benign
rs2131061036	9:130,965,803	C/T	—	likely benign
rs1131691398	9:130,965,804	G/T	—	uncertain significance
rs1268920821	9:130,965,830	G/A	—	likely benign
rs577437504	9:130,965,833	C/T	—	benign
rs944188764	9:130,965,836	C/A	—	likely benign
rs1833619327	9:130,965,844	C/T	—	uncertain significance
rs1458807270	9:130,965,846	C/T	—	pathogenic
rs1478390889	9:130,965,851	C/T	—	likely benign
rs1404767209	9:130,965,852	G/T	—	uncertain significance
rs972860852	9:130,965,857	G/T	—	likely benign
rs1131692025	9:130,965,861	G/A	—	conflicting classifications of pathogenicity
rs1326366504	9:130,965,863	C/T	—	likely benign
rs142432944	9:130,965,866	C/T	—	likely benign
rs2131061484	9:130,965,868	A/C	—	uncertain significance
rs1554767313	9:130,965,876	G/A	—	pathogenic
rs1833622746	9:130,965,877	G/A	—	pathogenic
rs1131692028	9:130,965,881	G/T	—	likely pathogenic
rs1554767317	9:130,965,883	G/A	—	pathogenic
rs781131754	9:130,965,887	G/A	—	likely benign
rs869312702	9:130,965,888	G/A	missense variant	pathogenic
rs1269297218	9:130,965,890	G/T	—	likely benign
rs769600214	9:130,965,899	T/C	—	likely benign
rs2131061694	9:130,965,901	T/C	—	uncertain significance
rs931414082	9:130,965,918	C/T	—	likely benign
rs1483670500	9:130,965,921	C/G	—	likely benign
rs775680544	9:130,965,924	G/A	—	likely benign
rs112665081	9:130,966,074	G/C	—	likely benign
rs115261347	9:130,966,218	C/T	—	likely benign
rs551384372	9:130,972,790	C/T	—	—
rs2502731	9:130,976,557	C/T	intron variant	—
rs78156728	9:130,976,666	A/G	intron variant	—
rs73672447	9:130,980,404	A/G	—	benign
rs12001345	9:130,980,476	T/A	—	likely benign
rs1057524327	9:130,980,493	C/T	—	likely benign
rs920593927	9:130,980,501	T/G	—	likely benign
rs1205557529	9:130,980,502	C/T	—	likely benign
rs2538974437	9:130,980,524	G/A	—	uncertain significance
rs2538974447	9:130,980,527	G/A	—	likely pathogenic
rs2538974458	9:130,980,533	G/A	—	uncertain significance
rs2131148741	9:130,980,542	C/T	—	uncertain significance
rs2538974505	9:130,980,545	G/C	—	pathogenic
rs199575353	9:130,980,547	C/T	—	conflicting classifications of pathogenicity
rs2538974528	9:130,980,552	C/G	—	uncertain significance
rs1166353872	9:130,980,556	G/C	—	uncertain significance
rs781185286	9:130,980,564	G/A	—	likely benign
rs551214260	9:130,980,572	A/T	—	uncertain significance
rs2538974598	9:130,980,581	C/A	—	uncertain significance
rs370555560	9:130,980,591	C/T	—	likely benign
rs1834733486	9:130,980,592	C/T	—	likely benign
rs372579464	9:130,980,593	C/T	—	likely benign
rs768729805	9:130,980,601	C/T	—	likely benign
rs1167550931	9:130,980,844	G/T	—	likely benign
rs2538976259	9:130,980,859	A/C	—	likely pathogenic
rs1834754134	9:130,980,868	C/A	—	likely benign
rs2538976291	9:130,980,871	G/A	—	likely benign
rs377178808	9:130,980,886	G/A	—	likely benign
rs2538976358	9:130,980,890	A/G	—	uncertain significance
rs1229779896	9:130,980,892	G/T	—	uncertain significance
rs1316212573	9:130,980,909	A/G	—	uncertain significance
rs1224690812	9:130,980,910	G/C	—	uncertain significance
rs1834755572	9:130,980,915	T/C	—	uncertain significance
rs1206732749	9:130,980,917	C/G	—	uncertain significance
rs748195071	9:130,980,918	G/A	—	uncertain significance
rs2131150420	9:130,980,923	G/A	—	uncertain significance
rs2131150438	9:130,980,929	G/A	—	likely benign
rs2538976520	9:130,980,934	C/G	—	uncertain significance
rs2229917	9:130,980,937	A/G	—	benign
rs1457231265	9:130,980,952	C/T	—	likely benign
rs192913494	9:130,980,957	C/G	—	likely benign
rs1834757521	9:130,980,960	A/C	—	uncertain significance
rs553331150	9:130,980,967	C/T	—	likely benign
rs776104715	9:130,980,975	C/T	—	uncertain significance
rs1834758362	9:130,980,977	G/A	—	uncertain significance
rs1357577359	9:130,980,979	G/A	—	likely benign
rs761430518	9:130,980,981	C/T	—	uncertain significance
rs77325628	9:130,980,982	T/A	—	likely benign
rs1057520197	9:130,980,983	A/G	—	uncertain significance
rs2131150705	9:130,981,000	C/T	—	likely benign
rs368475266	9:130,981,008	A/G	—	uncertain significance
rs535527521	9:130,981,009	C/T	—	uncertain significance
rs760372346	9:130,981,018	C/T	—	likely benign

Showing 100 of 743 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.