SWISSVAR
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1 protein found in SwissVar (20 variants)

with gene/protein name P43026

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)
P43026 GDF5_HUMAN acromesomelic chondrodysplasia, grebe type p.Cys400Tyr

P43026 GDF5_HUMAN acromesomelic chondrodysplasia, hunter-thompson type
P43026 GDF5_HUMAN brachydactyly c p.Met173Val
p.Thr201Pro
p.Thr203Asn
p.Leu263Pro
p.Val486Met





P43026 GDF5_HUMAN du pan syndrome p.Arg378Gln
p.Pro436Thr
p.Ser439Thr
p.His440Leu
p.Leu441Pro





P43026 GDF5_HUMAN symphalangism, proximal 1b p.Leu373Arg
p.Arg438Leu
p.Glu491Lys



P43026 GDF5_HUMAN multiple synostoses syndrome 2 p.Trp414Arg
p.Arg438Leu
p.Leu441Pro
p.Asn445Thr
p.Asn445Lys
p.Ser475Asn






P43026 GDF5_HUMAN brachydactyly a2 p.Arg380Gln
p.Leu441Pro


P43026 GDF5_HUMAN osteoarthritis 5
P43026 GDF5_HUMAN brachydactyly a1, c p.Arg399Cys
p.Trp414Arg