KIT NP_000213.1:p.L813P

Preferred Label : KIT NP_000213.1:p.L813P;

NCIt synonyms : c-KIT L813P; c-KIT p.L813P; Proto-Oncogene c-Kit L813P; Stem Cell Factor Receptor Leu813Pro; Tyrosine-Protein Kinase Kit L813P; Mast/Stem Cell Growth Factor Receptor Kit Leu813Pro; Proto-Oncogene Tyrosine-Protein Kinase Kit L813P; NP_000213.1:p.Leu813Pro; KIT Leu813Pro; KIT p.Leu813Pro; Stem Cell Factor Receptor L813P; Mast/Stem Cell Growth Factor Receptor Kit L813P; NP_000213.1:p.L813P; KIT NP_000213.1:p.Leu813Pro; CD117 Antigen Leu813Pro; KIT L813P; KIT p.L813P; c-KIT Leu813Pro; c-KIT p.Leu813Pro; Proto-Oncogene c-Kit Leu813Pro; Tyrosine-Protein Kinase Kit Leu813Pro; CD117 Antigen L813P; Proto-Oncogene Tyrosine-Protein Kinase Kit Leu813Pro;

NCIt definition : A change in the amino acid residue at position 813 in the mast/stem cell growth factor receptor Kit protein where leucine has been replaced by proline.;

NCI Metathesaurus CUI : CL556298;

Details

Origin ID

C155690;

UMLS CUI

C4744331;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_product_sequence_variation_encoded_by_gene_mutant
- KIT Exon 17 Mutation [NCIt concept]
- 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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