SWISSVAR
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1 protein found in SwissVar (10 variants)

with gene/protein name O43707

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)
O43707 ACTN4_HUMAN focal segmental glomerulosclerosis 1 p.Trp59Arg
p.Glu72Gln
p.Phe153Leu
p.Lys255Glu
p.Thr259Ile
p.Ser262Pro
p.Ser262Phe
p.Arg310Gln
p.Ala427Thr
p.Asn748Asp




2R0OA (259)
2R0OA (262)