SWISSVAR
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1 protein found in SwissVar (18 variants)

with gene/protein name P10912

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)
P10912 GHR_HUMAN laron syndrome p.Cys56Ser
p.Ser58Leu
p.Trp68Arg
p.Arg89Lys
p.Phe114Ser
p.Val143Ala
p.Pro149Gln
p.Val162Asp
p.Asp170His
p.Ile171Thr
p.Gln172Pro
p.Val173Gly
p.Arg179Cys
p.Tyr226Cys
p.Arg229Gly
p.Ser244Ile
p.Asp262Asn

















P10912 GHR_HUMAN growth hormone insensitivity, partial p.Glu62Lys
p.Arg179Cys