SWISSVAR
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1 protein found in SwissVar (11 variants)

with gene/protein name O75419

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)
O75419 CDC45_HUMAN meier-gorlin syndrome 7 p.Gln68Arg
p.Asn76His
p.Glu155Gly
p.Arg157Cys
p.Asp226Gly
p.Ser264Tyr
p.Ala298Val
p.Pro321Thr
p.Pro463Leu
p.Pro496Leu
p.Arg554Trp