KIF1A

kinesin family member 1A

Summary

The protein encoded by this gene is a member of the kinesin family and functions as an anterograde motor protein that transports membranous organelles along axonal microtubules. Mutations at this locus have been associated with spastic paraplegia-30 and hereditary sensory neuropathy IIC. Alternatively spliced transcript variants encoding distinct isoforms have been described. [provided by RefSeq, Apr 2012]

Known Variants2,470 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs143001518	2:241,653,185	G/A	—	likely benign
rs553759523	2:241,653,267	C/T	—	uncertain significance
rs566825730	2:241,653,282	G/A	—	uncertain significance
rs4613	2:241,653,287	A/G	—	benign
rs779053001	2:241,653,293	C/T	—	uncertain significance
rs1456668203	2:241,653,298	C/T	—	uncertain significance
rs146087816	2:241,653,371	G/A	—	uncertain significance
rs983893149	2:241,653,408	C/G	—	uncertain significance
rs545073996	2:241,653,436	C/T	—	uncertain significance
rs886055828	2:241,653,472	G/A	—	uncertain significance
rs1011371859	2:241,653,475	C/T	—	uncertain significance
rs780369009	2:241,653,481	G/A	—	uncertain significance
rs1301246063	2:241,653,494	A/G	—	uncertain significance
rs116352370	2:241,653,743	A/T	—	benign
rs573927495	2:241,653,746	C/G	—	uncertain significance
rs577880393	2:241,653,827	C/T	—	uncertain significance
rs2044430881	2:241,653,884	C/A	—	uncertain significance
rs71428457	2:241,653,930	C/T	—	uncertain significance
rs771582093	2:241,653,941	A/T	—	uncertain significance
rs756743128	2:241,653,985	G/A	—	uncertain significance
rs557055784	2:241,653,987	G/A	—	uncertain significance
rs71428458	2:241,654,043	C/G	—	uncertain significance
rs542654180	2:241,654,061	G/A	—	uncertain significance
rs771705587	2:241,654,149	C/T	—	uncertain significance
rs79286402	2:241,654,205	T/C	—	benign
rs141926687	2:241,654,238	G/A	—	benign
rs886055829	2:241,654,239	G/A	—	uncertain significance
rs923896641	2:241,654,240	C/T	—	uncertain significance
rs563883502	2:241,654,276	C/G	—	uncertain significance
rs565866804	2:241,654,282	C/T	—	uncertain significance
rs536347076	2:241,654,283	G/A	—	uncertain significance
rs548607067	2:241,654,291	G/T	—	uncertain significance
rs62187810	2:241,654,323	C/T	—	uncertain significance
rs115916702	2:241,654,378	C/T	—	conflicting classifications of pathogenicity
rs746714441	2:241,654,382	G/A	—	uncertain significance
rs192120362	2:241,654,419	C/T	—	uncertain significance
rs1357102806	2:241,654,420	G/A	—	uncertain significance
rs11547136	2:241,654,524	A/G	—	benign
rs886055830	2:241,654,621	A/G	—	uncertain significance
rs148679317	2:241,654,648	A/G	—	uncertain significance
rs1196012011	2:241,654,803	G/A	—	uncertain significance
rs184324379	2:241,654,821	C/T	—	uncertain significance
rs1396513192	2:241,654,822	C/A	—	uncertain significance
rs2044509402	2:241,654,830	A/G	—	uncertain significance
rs886055832	2:241,654,898	A/G	—	uncertain significance
rs7566538	2:241,654,958	A/G	—	benign
rs771530865	2:241,655,005	G/A	—	uncertain significance
rs3732338	2:241,655,038	C/T	—	benign
rs3732339	2:241,655,087	G/A	—	benign
rs142220621	2:241,655,095	C/G	—	likely benign
rs3732340	2:241,655,096	C/G	—	benign
rs916134088	2:241,655,119	C/T	—	uncertain significance
rs1456761693	2:241,655,151	T/C	—	uncertain significance
rs543044129	2:241,655,166	G/A	—	uncertain significance
rs558128100	2:241,655,200	T/G	—	uncertain significance
rs897826687	2:241,655,294	C/T	—	uncertain significance
rs530196248	2:241,655,295	G/A	—	uncertain significance
rs904152498	2:241,655,325	T/G	—	uncertain significance
rs115877951	2:241,655,363	C/T	—	conflicting classifications of pathogenicity
rs139653512	2:241,655,530	G/A	—	uncertain significance
rs114566813	2:241,655,540	C/A	—	conflicting classifications of pathogenicity
rs3732341	2:241,655,544	G/A	—	benign
rs2044578755	2:241,655,572	A/G	—	uncertain significance
rs886055833	2:241,655,576	C/T	—	uncertain significance
rs3732342	2:241,655,594	G/A	—	benign
rs73119967	2:241,655,670	G/A	—	uncertain significance
rs58502378	2:241,655,776	C/T	—	benign
rs189536509	2:241,655,869	T/C	—	uncertain significance
rs773115422	2:241,655,951	G/A	—	uncertain significance
rs2044613911	2:241,655,960	A/G	—	uncertain significance
rs1009670783	2:241,656,013	C/T	—	uncertain significance
rs552928475	2:241,656,205	G/A	—	uncertain significance
rs1271092296	2:241,656,207	G/T	—	uncertain significance
rs913376386	2:241,656,226	C/T	—	uncertain significance
rs866854968	2:241,656,229	C/T	—	uncertain significance
rs886055834	2:241,656,296	G/C	—	uncertain significance
rs180713855	2:241,656,434	T/C	—	uncertain significance
rs934101335	2:241,656,514	C/T	—	uncertain significance
rs2044657449	2:241,656,532	C/A	—	uncertain significance
rs942924768	2:241,656,537	C/G	—	uncertain significance
rs1061114	2:241,656,540	G/C	—	uncertain significance
rs921006450	2:241,656,591	G/A	—	uncertain significance
rs779232085	2:241,656,652	C/T	—	uncertain significance
rs1055639642	2:241,656,661	G/T	—	uncertain significance
rs1061113	2:241,656,673	G/A	—	uncertain significance
rs772148613	2:241,656,743	T/C	—	uncertain significance
rs375874661	2:241,656,746	G/T	—	uncertain significance
rs531276835	2:241,656,758	G/T	—	conflicting classifications of pathogenicity
rs762837283	2:241,656,766	C/T	—	uncertain significance
rs763602305	2:241,656,771	G/C	—	likely benign
rs1188028936	2:241,656,786	C/A	—	uncertain significance
rs1349426679	2:241,656,788	C/T	—	conflicting classifications of pathogenicity
rs375509312	2:241,656,789	G/A	—	conflicting classifications of pathogenicity
rs755583402	2:241,656,798	C/A	—	likely benign
rs779509876	2:241,656,802	C/A	—	uncertain significance
rs2125553497	2:241,656,805	C/T	—	likely benign
rs2536550826	2:241,656,806	C/G	—	uncertain significance
rs2125553520	2:241,656,808	T/C	—	likely benign
rs2536550929	2:241,656,813	A/G	—	uncertain significance
rs748416328	2:241,656,818	T/G	—	uncertain significance

Showing 100 of 2,470 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.