SWISSVAR

1 protein found in SwissVar (17 variants)

with gene/protein name Q13253

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)
Q13253 NOGG_HUMAN symphalangism, proximal 1a p.Pro35Arg
p.Pro35Ser
p.Cys184Tyr
p.Gly189Cys
p.Trp205Cys
p.Ile220Asn
p.Tyr222Asp
p.Tyr222Cys
p.Pro223Leu
1M4UA (35)
1M4UA (35)
1M4UA (184)
1M4UA (189)
1M4UA (205)
1M4UA (220)
1M4UA (222)
1M4UA (222)
1M4UA (223)
Q13253 NOGG_HUMAN multiple synostoses syndrome 1 p.Trp217Gly
p.Cys232Trp
1M4UA (217)

Q13253 NOGG_HUMAN tarsal-carpal coalition syndrome p.Pro35Arg
p.Arg204Leu
p.Tyr222Cys
1M4UA (35)
1M4UA (204)
1M4UA (222)
Q13253 NOGG_HUMAN stapes ankylosis with broad thumb and toes
Q13253 NOGG_HUMAN brachydactyly b2 p.Pro35Ser
p.Pro35Ala
p.Ala36Pro
p.Glu48Lys
p.Arg167Gly
p.Pro187Ser
1M4UA (35)
1M4UA (35)
1M4UA (36)
1M4UA (48)
1M4UA (167)
1M4UA (187)