KEGG   VARIANT: 3796v1
Entry
3796v1                      Variant                                
Name
KIF2A mutation
Type
Loss of function
Gene
KIF2A  kinesin family member 2A [KO:K10393]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602591
Network
nt06515  Regulation of kinetochore-microtubule interactions
nt06541  Cytoskeleton in neurons
Disease
H01881  Complex cortical dysplasia with other brain malformations
Reference
  Authors
Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Genevieve D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J
  Title
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
  Journal
Nat Genet 45:639-47 (2013)
DOI:10.1038/ng.2613
LinkDB

DBGET integrated database retrieval system