Preferred Label : EZH2 NP_004447.2:p.Y646C;
NCIt synonyms : Lysine N-Methyltransferase 6 Tyr646Cys; NP_004447.2:p.Y646C; EZH2 Tyr646Cys; EZH2 p.Tyr646Cys; Histone-Lysine N-Methyltransferase EZH2 Y646C; ENX-1 Y646C; Enhancer of Zeste Homolog 2 Y646C; EZH2 NP_004447.2:p.Tyr646Cys; NP_004447.2:p.Tyr646Cys; Lysine N-Methyltransferase 6 Y646C; EZH2 Y646C; Histone-Lysine N-Methyltransferase EZH2 Tyr646Cys; ENX-1 Tyr646Cys; EZH2 p.Y646C; Enhancer of Zeste Homolog 2 Tyr646Cys;
NCIt definition : A change in the amino acid residue at position 646 in the histone-lysine N-methyltransferase
EZH2 protein where tyrosine has been replaced by cysteine.;
NCI Metathesaurus CUI : CL1794077;
Origin ID : C188787;
UMLS CUI : C5708035;
Semantic type(s)
gene_product_variant_of_gene_product
molecular_abnormality_involves_gene