SWISSVAR
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1 protein found in SwissVar (18 variants)

with gene/protein name Q12840

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
Q12840 KIF5A_HUMAN spastic paraplegia 10, autosomal dominant p.Tyr63Cys
p.Met198Thr
p.Ser203Cys
p.Arg204Gln
p.Glu251Lys
p.Lys253Asn
p.Asn256Ser
p.Lys257Asn
p.Tyr276Cys
p.Arg280His
p.Arg280Leu
p.Arg280Cys
p.Ala361Val













Q12840 KIF5A_HUMAN myoclonus, intractable, neonatal
Q12840 KIF5A_HUMAN amyotrophic lateral sclerosis 25 p.Glu413Gly
p.Gln474His
p.Ser577Gly
p.Pro986Leu
p.Arg1007Gly