Preferred Label : MED12 NP_891555.2:p.S672 Frameshift;
NCIt synonyms : Thyroid Hormone Receptor-Associated Protein Complex 230 kDa Component S672fs; OPA-Containing Protein S672fs; MED12 NP_891555.2:p.S672fs; NP_891555.2:p.Ser672fs; Mediator Complex Subunit 12 S672fs; Activator-Recruited Cofactor 240 kDa Component Ser672fs; NP_891555.2:p.S672fs; ARC240 Ser672fs; Activator-Recruited Cofactor 240 kDa Component S672fs; MED12 p.Ser672fs; ARC240 S672fs; MED12 Ser672fs; CAG Repeat Protein 45 Ser672fs; Trinucleotide Repeat-Containing Gene 11 Protein Ser672fs; Mediator of RNA Polymerase II Transcription Subunit 12 Ser672fs; MED12 p.S672fs; Trap230 Ser672fs; MED12 S672fs; CAG Repeat Protein 45 S672fs; Thyroid Hormone Receptor-Associated Protein Complex 230 kDa Component Ser672fs; OPA-Containing Protein Ser672fs; Trinucleotide Repeat-Containing Gene 11 Protein S672fs; MED12 NP_891555.2:p.Ser672fs; Mediator Complex Subunit 12 Ser672fs; Mediator of RNA Polymerase II Transcription Subunit 12 S672fs; Trap230 S672fs;
NCIt definition : A change in the amino acid composition at position 672 in the mediator of RNA polymerase
II transcription subunit 12 protein where a frameshift mutation results in the substitution
of the serine with one or more non-canonical amino acids followed by a stop codon.;
NCI Metathesaurus CUI : CL1379029;
PubMed : 31026031;
Origin ID : C169095;
UMLS CUI : C5239383;
Semantic type(s)
- gene_product_variant_of_gene_product
- molecular_abnormality_involves_gene
