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 | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P22607 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
FGFR3 | - |
Homo sapiens |
fibroblast growth factor receptor 3 | - |
Homo sapiens |