SWISSVAR
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1 protein found in SwissVar (8 variants)

with gene/protein name O75603

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)
O75603 GCM2_HUMAN hypoparathyroidism, familial isolated p.Arg47Leu
p.Gly63Ser
p.Arg110Trp
p.Asn502His




O75603 GCM2_HUMAN hyperparathyroidism 4 p.Gln251Glu
p.Leu379Gln
p.Val382Met
p.Tyr394Ser