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 syndrome | 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) |