Literature summary for 2.7.10.1 extracted from

Pulleyn, L.J.; Reardon, W.; Wilkes, D.; Rutland, P.; Jones, B.M.; Hayward, R.; Hall, C.M.; Brueton, L.; Chun, N.; Lammer, E.; Malcolm, S.; Winter, R.M.
Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus (1996), Eur. J. Hum. Genet., 4, 283-291.

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Protein Variants

Protein Variants	Comment	Organism
additional information	FGFR2 mutations associated with a spectrum of craniosyostosis phenotypes: tyrosine 105 to cysteine, glycine 338 to glutamic acid, serine 351 to cysteine and glycine 384 to arginine	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P21802	-	-

Synonyms

Synonyms	Comment	Organism
fibroblast growth factor receptor 2	-	Homo sapiens

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Release 2023.1 (January 2023)