SWISSVAR
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1 protein found in SwissVar (15 variants)

with gene/protein name P50416

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)
P50416 CPT1A_HUMAN carnitine palmitoyltransferase 1a deficiency p.Arg123Cys
p.Cys304Trp
p.Thr314Ile
p.Arg316Gly
p.Phe343Val
p.Arg357Trp
p.Glu360Gly
p.Ala414Val
p.Asp454Gly
p.Gly465Trp
p.Pro479Leu
p.Leu484Pro
p.Tyr498Cys
p.Gly709Glu
p.Gly710Glu