SWISSVAR
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1 protein found in SwissVar (14 variants)

with gene/protein name P11473

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)
P11473 VDR_HUMAN rickets vitamin d-dependent 2a p.Gly33Asp
p.His35Gln
p.Lys45Glu
p.Gly46Asp
p.Phe47Ile
p.Arg50Gln
p.Arg73Gln
p.Arg80Gln
p.Arg274Leu
p.His305Gln
p.Ile314Ser
p.Val346Met
p.Ser360Pro
p.Arg391Cys