H3.3 K27M Variant

Preferred Label : H3.3 K27M Variant;

NCIt synonyms : NP_002098.1:p.Lys28Met; H3.3 NP_002098.1:p.K28M; H3.3 p.Lys28Met; H3.3 NP_002098.1:p.Lys28Met; H3.3 p.K28M; Histone H3.3 K27M Mutation; Histone H3.3 K28M Mutation; H3.3K27M Mutation; H3.3 K28M Mutation; Histone H3.3 Lys27Met Mutation; NP_002098.1:p.K28M; Histone H3.3 Lys28Met Mutation; H3.3 Lys27Met Mutation; H3.3 Lys28Met Mutation; H3.3 K27M Mutation;

NCIt definition : A change in the amino acid residue at position 27 in histone H3.3 protein where lysine has been replaced by methionine.;

NCIt note : Even though the literature refers to lysine 27 methylation or amino acid variation/mutation, RefSeq indicates that the lysine is located at amino acid position 28 in histone H3.3. (see also https://link.springer.com/article/10.1007/s00401-018-1867-2);

NCI Metathesaurus CUI : CL552562;

Details

Origin ID

C148096;

UMLS CUI

C4688369;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_product_sequence_variation_encoded_by_gene_mutant
- H3-3A NM_002107.4:c.83A>T [NCIt concept]
gene_product_variant_of_gene_product
- Histone H3 [NCIt concept]
- Histone H3.3 [NCIt concept]
is_target
- Autologous Anti-H3.3K27M TCR-expressing T-cells [NCIt concept]
- H3.3K27M-specific Peptide Vaccine [NCIt concept]
- H3K27M Long Peptide Vaccine [NCIt concept]
molecular_abnormality_involves_gene
- Histone H3 Gene [NCIt concept]
related_to_genetic_biomarker
- H3-3A Gene [NCIt concept]
- H3-3B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients