KIF1C

kinesin family member 1C

Summary

The protein encoded by this gene is a member of the kinesin-like protein family. The family members are microtubule-dependent molecular motors that transport organelles within cells and move chromosomes during cell division. Mutations in this gene are a cause of spastic ataxia 2, autosomal recessive. [provided by RefSeq, May 2014]

Known Variants556 total

rsidPosition (GRCh37)AllelesClassClinVar
rs86780708517:4,901,431C/G—likely benign
rs18114534017:4,901,464G/C—benign
rs56729945217:4,901,467G/A—likely benign
rs1165858717:4,901,982C/Tregulatory region variant—
rs23823717:4,902,958A/G—benign
rs75868132717:4,903,152C/T—likely benign
rs53154460117:4,903,273G/A—likely benign
rs7528430417:4,903,395T/C—benign
rs146878698817:4,903,544G/T—likely pathogenic
rs76905372817:4,903,551G/T—uncertain significance
rs74742454717:4,903,555C/T—conflicting classifications of pathogenicity
rs128002073717:4,903,556G/A—benign
rs14836179417:4,903,559G/A—conflicting classifications of pathogenicity
rs75607106117:4,903,578C/T—uncertain significance
rs250813012717:4,903,582C/T—likely pathogenic
rs118462681217:4,903,589C/T—likely benign
rs95831603017:4,903,592C/T—likely benign
rs75691687917:4,903,594G/A—uncertain significance
rs125092086017:4,903,617T/C—likely benign
rs74755079417:4,903,661C/T—likely benign
rs76905193317:4,903,662G/A—likely benign
rs19184238617:4,903,989G/A—likely benign
rs75364326117:4,904,051C/T—likely benign
rs149038319517:4,904,060C/T—likely benign
rs214330636317:4,904,062C/T—likely benign
rs75104759717:4,904,069A/G—uncertain significance
rs37733724017:4,904,074C/T—likely benign
rs136809091017:4,904,076A/G—uncertain significance
rs20203375317:4,904,086G/C—uncertain significance
rs77107145017:4,904,112C/T—uncertain significance
rs14758356217:4,904,113C/T—likely benign
rs77222905017:4,904,122C/T—likely benign
rs77668452017:4,904,137C/T—likely benign
rs88604103517:4,904,143G/Asplice region variantpathogenic
rs11304793317:4,904,160G/C—likely benign
rs100406517:4,904,164G/A—benign
rs7283832717:4,904,376T/A—benign
rs125254441517:4,904,504C/A—likely benign
rs19238427617:4,904,509T/C—likely benign
rs76268818017:4,904,518C/T—uncertain significance
rs20108567417:4,904,556C/T—uncertain significance
rs1770738517:4,904,564T/C—benign
rs56944669417:4,904,585C/T—likely benign
rs250813623017:4,904,588C/G—likely benign
rs53519036717:4,904,603C/T—likely benign
rs74711087717:4,904,604G/A—uncertain significance
rs55539370317:4,904,630C/T—likely benign
rs197458660517:4,904,638G/C—pathogenic
rs57215626817:4,904,644C/T—uncertain significance
rs250813657617:4,904,651C/A—likely benign
rs77493981417:4,904,661C/T—pathogenic
rs76014276117:4,904,667G/A—uncertain significance
rs14277398717:4,904,672A/G—conflicting classifications of pathogenicity
rs75784723817:4,904,685A/C—uncertain significance
rs37233957717:4,904,688G/A—uncertain significance
rs36837126017:4,904,700C/T—uncertain significance
rs37150048417:4,904,701G/A—uncertain significance
rs74727441317:4,904,714T/C—likely benign
rs224028917:4,905,127G/A—benign
rs11643554017:4,905,231C/A—benign
rs37726615117:4,905,314G/Aupstream gene variant—
rs76337894217:4,905,336C/T—likely benign
rs20019509017:4,905,337C/T—likely benign
rs76690018217:4,905,346C/T—likely benign
rs78107291317:4,905,356C/T—likely benign
rs36963118117:4,905,358G/T—uncertain significance
rs74585101417:4,905,375C/T—uncertain significance
rs15060255817:4,905,376G/A—uncertain significance
rs13869236617:4,905,377C/A—likely benign
rs156771980817:4,905,380T/A—uncertain significance
rs250813941117:4,905,389C/T—likely benign
rs77374667217:4,905,402C/G—uncertain significance
rs57802741717:4,905,406C/G—uncertain significance
rs54995723017:4,905,427C/T—uncertain significance
rs159784104317:4,905,429G/T—likely benign
rs37426414017:4,905,434T/C—likely benign
rs14962776617:4,905,580C/T—likely benign
rs5567585317:4,905,627C/G—benign
rs5575850317:4,905,705C/T—benign
rs93855245417:4,905,749T/C—likely benign
rs74974749817:4,905,753A/T—likely benign
rs214331268217:4,905,774A/T—pathogenic
rs76782092517:4,905,776C/T—conflicting classifications of pathogenicity
rs75649368617:4,905,778A/C—uncertain significance
rs197462033917:4,905,779C/T—likely benign
rs197462055217:4,905,785G/A—likely benign
rs76416474217:4,905,786C/T—uncertain significance
rs129187167217:4,905,792C/G—uncertain significance
rs14412593717:4,905,797C/T—likely benign
rs14053198217:4,905,800C/A—likely benign
rs250814099817:4,905,815T/C—likely benign
rs78090725217:4,905,816C/T—uncertain significance
rs74783409417:4,905,817G/A—uncertain significance
rs18547961817:4,905,828C/T—conflicting classifications of pathogenicity
rs19996281417:4,905,829G/A—conflicting classifications of pathogenicity
rs58777719817:4,905,834C/Tmissense variantpathogenic
rs77247582817:4,905,856C/T—pathogenic
rs77571979317:4,905,857G/T—uncertain significance
rs76089040317:4,905,860C/T—likely benign
rs37136836117:4,905,863G/T—likely benign

Showing 100 of 556 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.