FLT3 Activation Loop Mutation

Preferred Label : FLT3 Activation Loop Mutation;

NCIt synonyms : FLT3-ALM; FLT3 A-Loop Mutation; FLT3-TKD Mutation; FLT3/TKD Mutation; FLT3 Tyrosine Kinase Domain Mutation;

NCIt related terms : FLT3- TKD mutations;

NCIt definition : A mutation in the region of the FLT3 gene that encodes the second tyrosine kinase domain of the receptor-type tyrosine-protein kinase FLT3 that causes the stabilization of the activation loop of the kinase domain. FLT3 activation loop mutations lead to constitutive tyrosine kinase activity and are associated with acute myeloid leukemia.;

NCIt note : The majority of FLT3 activation loop mutations involve the deletion of or point mutations in codon 835 (aspartate 835) or point mutations in codon 836 (isoleucine 836).;

PubMed : 17965322;

Details

Origin ID

C120063;

UMLS CUI

C3899165;

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_mutant_encodes_gene_product_sequence_variation
- FLT3 Protein Variant [NCIt concept]
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- FLT3 Gene [NCIt concept]
- Receptor Tyrosine Kinase Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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