SWISSVAR
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1 protein found in SwissVar (6 variants)

with gene/protein name P55268

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)
P55268 LAMB2_HUMAN pierson syndrome p.Arg246Gln
p.Arg246Trp
p.Cys321Arg
p.Asn1380Lys
p.Leu1393Phe





P55268 LAMB2_HUMAN nephrotic syndrome 5 with or without ocular abnormalities p.His147Arg
p.Cys321Arg
p.Asn1380Lys
p.Leu1393Phe