Literature summary for 2.7.10.1 extracted from

Bellus, G.A.; McIntosh, I.; Smith, E.A.; Aylsworth, A.S.; Kaitila, I.; Horton, W.A.; Greenhaw, G.A.; Hecht, J.T.; Francomano, C.A.
A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia (1995), Nat. Genet., 10, 357-359.

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Protein Variants

Protein Variants	Comment	Organism
additional information	a recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. This mutation causes a C to A transversion at nucleotide 1620, resulting in an Asn540Lys substitution in the proximal tyrosine kinase domain	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	P22607	-	-

Synonyms

Synonyms	Comment	Organism
FGFR3	-	Homo sapiens
fibroblast growth factor receptor 3	-	Homo sapiens

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Release 2023.1 (January 2023)