Preferred Label : EZH2 NP_004447.2:p.Y646F;
NCIt synonyms : EZH2 NP_004447.2:p.Tyr646Phe; NP_004447.2:p.Tyr646Phe; NP_004447.2:p.Y646F; Histone-Lysine N-Methyltransferase EZH2 Tyr646Phe; ENX-1 Tyr646Phe; Histone-Lysine N-Methyltransferase EZH2 Y646F; ENX-1 Y646F; Enhancer of Zeste Homolog 2 Tyr646Phe; Lysine N-Methyltransferase 6 Tyr646Phe; Enhancer of Zeste Homolog 2 Y646F; EZH2 Tyr646Phe; Lysine N-Methyltransferase 6 Y646F; EZH2 p.Tyr646Phe; EZH2 Y646F; EZH2 p.Y646F;
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EZH2 protein where tyrosine has been replaced by phenylalanine.;
NCI Metathesaurus CUI : CL1793685;
Origin ID : C188783;
UMLS CUI : C5708031;
- Semantic type(s)
- gene_product_variant_of_gene_product
- molecular_abnormality_involves_gene