MSH2 Protein Variant

Preferred Label : MSH2 Protein Variant;

NCIt synonyms : MutS Homolog 2 Protein Variant; MutS Protein Homolog 2 Protein Variant; DNA Mismatch Repair Protein Msh2 Protein Variant;

NCIt definition : A variation in the amino acid sequence for DNA mismatch repair protein Msh2.;

NCI Metathesaurus CUI : CL514310;

Details

Origin ID

C131462;

UMLS CUI

C4330607;

Automatic exact mappings (from CISMeF team)
- muts homolog 2 protein [MeSH Descriptor]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_product_sequence_variation_encoded_by_gene_mutant
- Deleterious MSH2 Gene Mutation [NCIt concept]
- MSH2 Gene Mutation [NCIt concept]
- MSH2 NM_000251.2:c.1906G>C [NCIt concept]
gene_product_variant_of_gene_product
- DNA Mismatch Repair Protein Msh2 [NCIt concept]
molecular_abnormality_involves_gene
- MSH2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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