KIT NP_000213.1:p.L647F

Preferred Label : KIT NP_000213.1:p.L647F;

NCIt synonyms : Tyrosine-Protein Kinase Kit L647F; Proto-Oncogene Tyrosine-Protein Kinase Kit L647F; Stem Cell Factor Receptor Leu647Phe; Mast/Stem Cell Growth Factor Receptor Kit Leu647Phe; NP_000213.1:p.Leu647Phe; Stem Cell Factor Receptor L647F; Mast/Stem Cell Growth Factor Receptor Kit L647F; NP_000213.1:p.L647F; KIT Leu647Phe; KIT p.Leu647Phe; KIT L647F; KIT p.L647F; KIT NP_000213.1:p.Leu647Phe; CD117 Antigen Leu647Phe; c-KIT Leu647Phe; CD117 Antigen L647F; c-KIT p.Leu647Phe; Proto-Oncogene c-Kit Leu647Phe; Tyrosine-Protein Kinase Kit Leu647Phe; c-KIT L647F; c-KIT p.L647F; Proto-Oncogene Tyrosine-Protein Kinase Kit Leu647Phe; Proto-Oncogene c-Kit L647F;

NCIt definition : A change in the amino acid residue at position 647 in the mast/stem cell growth factor receptor Kit protein where leucine has been replaced by phenylalanine.;

NCI Metathesaurus CUI : CL556288;

Details

Origin ID

C155683;

UMLS CUI

C4744326;

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.1939C>T [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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