KIT Protein Variant

Preferred Label : KIT Protein Variant;

NCIt synonyms : CD117 Antigen Protein Variant; Stem Cell Factor Receptor Protein Variant; Mast/Stem Cell Growth Factor Receptor Kit Protein Variant; c-KIT Protein Variant; Proto-Oncogene c-Kit Protein Variant; Tyrosine-Protein Kinase Kit Protein Variant; Proto-Oncogene Tyrosine-Protein Kinase Kit Protein Variant;

NCIt definition : A variation in the amino acid sequence for the mast/stem cell growth factor receptor Kit protein.;

NCI Metathesaurus CUI : CL508024;

Details

Origin ID

C126819;

UMLS CUI

C4288858;

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
- C-KIT Somatic Point Mutation [NCIt concept]
- KIT Exon 11 Mutation [NCIt concept]
- KIT Exon 13 Mutation [NCIt concept]
- KIT Exon 14 Mutation [NCIt concept]
- KIT Exon 17 Mutation [NCIt concept]
- KIT Exon 18 Mutation [NCIt concept]
- KIT Exon 8 Mutation [NCIt concept]
- KIT Exon 9 Mutation [NCIt concept]
- KIT Gene Mutation [NCIt concept]
- KIT NM_000222.2:c.1924A>G [NCIt concept]
- KIT NM_000222.2:c.1939C>T [NCIt concept]
- KIT NM_000222.2:c.1958T>C [NCIt concept]
- KIT NM_000222.2:c.1961T>C [NCIt concept]
- KIT NM_000222.2:c.2447A>T [NCIt concept]
- KIT NM_000222.2:c.2458G>T [NCIt concept]
- KIT NM_000222.2:c.2464A>T [NCIt concept]
- KIT NM_000222.2:c.2466T>A [NCIt concept]
- KIT NM_000222.2:c.2466T>G [NCIt concept]
- KIT NM_000222.2:c.2466T>R [NCIt concept]
- KIT NM_000222.2:c.2485G>C [NCIt concept]
- KIT NM_000222.2:c.2492T>C [NCIt concept]
- KIT NM_000222.2:c.2537A>G [NCIt concept]
- KIT NM_000222.2:c.2554G>A [NCIt concept]
- KIT NM_000222.2:c.2576T>C [NCIt concept]
- Non-synonymous KIT Gene Mutation [NCIt concept]
- Somatic KIT Gene Mutation [NCIt concept]
gene_product_variant_of_gene_product
- Mast/Stem Cell Growth Factor Receptor Kit [NCIt concept]
molecular_abnormality_involves_gene
- KIT Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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