Preferred Label : SETD2 NP_054878.5:p.E1265 Frameshift;
NCIt synonyms : HIP-1 Glu1265fs; Lysine N-Methyltransferase 3A E1265fs; SET Domain-Containing Protein 2 E1265fs; SETD2 E1265fs; SETD2 p.E1265fs; Lysine N-Methyltransferase 3A Glu1265fs; NP_054878.5:p.E1265fs; p231HBP E1265fs; SET Domain-Containing Protein 2 Glu1265fs; SETD2 Glu1265fs; Huntingtin-Interacting Protein 1 E1265fs; Histone-Lysine N-Methyltransferase SETD2 E1265fs; SETD2 p.Glu1265fs; p231HBP Glu1265fs; NP_054878.5:p.Glu1265fs; SETD2 NP_054878.5:p.E1265fs; Huntingtin-Interacting Protein 1 Glu1265fs; Histone-Lysine N-Methyltransferase SETD2 Glu1265fs; HIF-1 E1265fs; Huntingtin Yeast Partner B E1265fs; Huntingtin-Interacting Protein B E1265fs; SETD2 NP_054878.5:p.Glu1265fs; HIP-1 E1265fs; HIF-1 Glu1265fs; Huntingtin Yeast Partner B Glu1265fs; Huntingtin-Interacting Protein B Glu1265fs;
NCIt definition : A change in the amino acid residue at position 1265 in the histone-lysine methyltransferase
SETD2 protein where glutamic acid has been replaced one or more non-canonical amino
acids followed by a stop codon.;
NCI Metathesaurus CUI : CL1378851;
PubMed : 31026031;
Origin ID : C169040;
UMLS CUI : C5239333;
Semantic type(s)
- gene_product_variant_of_gene_product
- molecular_abnormality_involves_gene
