IDH1 NP_005887.2:p.R132X

Preferred Label : IDH1 NP_005887.2:p.R132X;

NCIt synonyms : IDH1 NP_005887.2:p.Arg132Xxx; IDH1 R132X; Cytosolic NADP-Isocitrate Dehydrogenase Protein R132X; IDH1 p.R132X; NP_005887.2:p.Arg132Xxx; Isocitrate Dehydrogenase [NADP] Cytoplasmic Arg132Xxx; IDH1 p.R132; IDH1 Arg132Xxx; Cytosolic NADP-Isocitrate Dehydrogenase Protein Arg132Xxx; IDH1 p.Arg132Xxx; NP_005887.2:p.R132X; Isocitrate Dehydrogenase [NADP] Cytoplasmic R132X; IDH1 R132X Mutation; IDH1 R132 Mutation; IDH1-R132 Mutation;

NCIt related terms : IDH1 R132;

NCIt definition : A change in the amino acid residue at position 132 in the isocitrate dehydrogenase [NADP] cytoplasmic protein where arginine has been replaced by another amino acid. Mutations at this position occur frequently in high-grade gliomas but not in other solid tumors.;

Details

Origin ID

C117280;

UMLS CUI

C3898826;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CPTAC Acute Myeloid Leukemia Baseline Form [NCIt concept]
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_product_sequence_variation_encoded_by_gene_mutant
- IDH1 Gene Mutation [NCIt concept]
gene_product_variant_of_gene_product
- Isocitrate Dehydrogenase [NADP] Cytoplasmic [NCIt concept]
is_target
- Crelosidenib [NCIt concept]
- IDH1(R132) Inhibitor IDH305 [NCIt concept]
- Olutasidenib [NCIt concept]
- Pan-Mutant-IDH1 Inhibitor Bay-1436032 [NCIt concept]
molecular_abnormality_involves_gene
- IDH1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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