FGFR3 NP_000133.1:p.R248C

Preferred Label : FGFR3 NP_000133.1:p.R248C;

NCIt synonyms : Tyrosine Kinase JTK4 Arg248Cys; FGFR-3 Arg248Cys; FGFR-3 R248C; FGFR-3 p.Arg248Cys; FGFR-3 p.R248C; CD333 Antigen Arg248Cys; CD333 Antigen R248C; FGFR3 Arg248Cys; FGFR3 R248C; FGFR3 p.Arg248Cys; FGFR3 p.R248C; Fibroblast Growth Factor Receptor 3 Arg248Cys; Fibroblast Growth Factor Receptor 3 R248C; FGFR3 NP_000133.1:p.Arg248Cys; NP_000133.1:p.Arg248Cys; NP_000133.1:p.R248C; Tyrosine Kinase JTK4 R248C;

NCIt definition : A change in the amino acid residue at position 284 in the fibroblast growth factor receptor 3 protein where arginine has been replaced by cysteine.;

Details

Origin ID

C128905;

UMLS CUI

C4289329;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_product_sequence_variation_encoded_by_gene_mutant
- FGFR3 Gene Mutation [NCIt concept]
- FGFR3 NM_000142.4:c.742C>T [NCIt concept]
gene_product_variant_of_gene_product
- Fibroblast Growth Factor Receptor 3 [NCIt concept]
molecular_abnormality_involves_gene
- FGFR3 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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