Preferred Label : JAK2 NP_004963.1:p.G996R;
NCIt synonyms : NP_004963.1:p.G996R; JAK2 Gly996Arg; JAK2 p.Gly996Arg; Janus Kinase 2 Gly996Arg; Tyrosine-Protein Kinase JAK2 Gly996Arg; JAK2 NP_004963.1:p.Gly996Arg; NP_004963.1:p.Gly996Arg; JAK2 G996R; Tyrosine-Protein Kinase JAK2 G996R; Janus Kinase 2 G996R; JAK2 p.G996R;
NCIt definition : A change in the amino acid residue at position 996 in the tyrosine-protein kinase
JAK2 protein where glycine has been replaced by arginine.;
NCI Metathesaurus CUI : CL979183;
PubMed : 31026031;
Origin ID : C166158;
UMLS CUI : C5237740;
- Semantic type(s)
- gene_product_variant_of_gene_product
- molecular_abnormality_involves_gene