KIT NP_000213.1:p.V654A

Preferred Label : KIT NP_000213.1:p.V654A;

NCIt synonyms : Mast/Stem Cell Growth Factor Receptor Kit V654A; NP_000213.1:p.V654A; c-KIT Val654Ala; c-KIT p.Val654Ala; Proto-Oncogene c-Kit Val654Ala; Tyrosine-Protein Kinase Kit Val654Ala; KIT V654A; KIT p.V654A; Proto-Oncogene Tyrosine-Protein Kinase Kit Val654Ala; CD117 Antigen V654A; Stem Cell Factor Receptor Val654Ala; Mast/Stem Cell Growth Factor Receptor Kit Val654Ala; c-KIT V654A; NP_000213.1:p.Val654Ala; c-KIT p.V654A; Proto-Oncogene c-Kit V654A; Tyrosine-Protein Kinase Kit V654A; KIT Val654Ala; KIT p.Val654Ala; Proto-Oncogene Tyrosine-Protein Kinase Kit V654A; KIT NP_000213.1:p.Val654Ala; CD117 Antigen Val654Ala; Stem Cell Factor Receptor V654A;

NCIt definition : A change in the amino acid residue at position 654 in the mast/stem cell growth factor receptor Kit protein where valine has been replaced by alanine.;

NCI Metathesaurus CUI : CL556293;

Details

Origin ID

C155688;

UMLS CUI

C4744330;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_product_sequence_variation_encoded_by_gene_mutant
- KIT Gene Mutation [NCIt concept]
- KIT NM_000222.2:c.1961T>C [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]

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