EZH2 NP_004447.2:p.Y646X

Preferred Label : EZH2 NP_004447.2:p.Y646X;

NCIt synonyms : EZH2 Tyr646Xxx; ENX-1 Y646X; EZH2 p.Tyr646Xxx; Enhancer of Zeste Homolog 2 Y646X; Lysine N-Methyltransferase 6 Y646X; EZH2 NP_004447.2:p.Tyr646Xxx; EZH2 Y646X; NP_004447.2:p.Tyr646Xxx; EZH2 p.Y646X; Histone-Lysine N-Methyltransferase EZH2 Tyr646Xxx; ENX-1 Tyr646Xxx; NP_004447.2:p.Y646X; Enhancer of Zeste Homolog 2 Tyr646Xxx; Lysine N-Methyltransferase 6 Tyr646Xxx; Histone-Lysine N-Methyltransferase EZH2 Y646X;

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in the amino acid residue at position 646 in the histone-lysine N-methyltransferase EZH2 protein where tyrosine has been replaced by another amino acid.;

NCI Metathesaurus CUI : CL1793688;

Details

Origin ID

C188772;

UMLS CUI

C5708021;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_product_variant_of_gene_product
- Histone-Lysine N-Methyltransferase EZH2 [NCIt concept]
molecular_abnormality_involves_gene
- EZH2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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