SWISSVAR
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1 protein found in SwissVar (3 variants)

with gene/protein name P51530

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)
P51530 DNA2_HUMAN progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 6 p.Arg198His
p.Lys227Glu
p.Val637Ile



P51530 DNA2_HUMAN seckel syndrome 8