IDH2 NP_002159.2:p.R172K

Preferred Label : IDH2 NP_002159.2:p.R172K;

NCIt synonyms : Isocitrate Dehydrogenase 2 (NADP ) Mitochondrial Arg172Lys; Isocitrate Dehydrogenase 2 (NADP ) Mitochondrial R172K; IDH2 Arg172Lys; IDH2 R172K; IDH2 p.Arg172Lys; NP_002159.2:p.Arg172Lys; NP_002159.2:p.R172K; Isocitrate Dehydrogenase [NADP], Mitochondrial Arg172Lys; Isocitrate Dehydrogenase [NADP], Mitochondrial R172K; IDH2 NP_002159.2:p.Arg172Lys; IDH2 R172K Mutation;

NCIt related terms : R172K;

NCIt definition : A change in the amino acid residue at position 172 in the isocitrate dehydrogenase [NADP], mitochondrial protein where arginine has been replaced by lysine.;

NCI Metathesaurus CUI : CL513480;

Details

Origin ID

C131112;

UMLS CUI

C4330398;

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
- IDH2 Gene Mutation [NCIt concept]
- IDH2 NM_002168.3:c.515G>A [NCIt concept]
- IDH2 NM_002168.3:c.515_516delinsAA [NCIt concept]
gene_product_variant_of_gene_product
- Isocitrate Dehydrogenase [NADP], Mitochondrial [NCIt concept]
molecular_abnormality_involves_gene
- IDH2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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