Literature summary for 2.7.10.1 extracted from

Tavormina, P.L.; Shiang, R.; Thompson, L.M.; Zhu, Y.Z.; Wilkin, D.J.; Lachman, R.S.; Wilcox, W.R.; Rimoin, D.L.; Cohn, D.H.; Wasmuth, J.J.
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3 (1995), Nat. Genet., 9, 321-328.

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Protein Variants

Protein Variants	Comment	Organism
additional information	a sporadic mutation causing a Lys650Glu change in the tyrosine kinase domain of FGFR3 is found in 16 of 16 individuals with one type of thanatophoric dysplasia. Of 39 individuals with a second type of thanatophoric dysplasia, 22 have a mutation causing an Arg248Cys change and one has a Ser371Cys substitution, both in the extracellular region of the protein	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P22607	-	-

Synonyms

Synonyms	Comment	Organism
fibroblast growth factor receptor 3	-	Homo sapiens

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Release 2023.1 (January 2023)