JAK2 NP_004963.1:p.R938L

Preferred Label : JAK2 NP_004963.1:p.R938L;

NCIt synonyms : JAK2 Arg938Leu; JAK2 p.Arg938Leu; Janus Kinase 2 Arg938Leu; Tyrosine-Protein Kinase JAK2 Arg938Leu; JAK2 NP_004963.1:p.Arg938Leu; JAK2 R938L; NP_004963.1:p.Arg938Leu; Tyrosine-Protein Kinase JAK2 R938L; Janus Kinase 2 R938L; JAK2 p.R938L; NP_004963.1:p.R938L;

NCIt definition : A change in the amino acid residue at position 938 in the tyrosine-protein kinase JAK2 protein where arginine has been replaced by leucine.;

Details

Origin ID

C105917;

UMLS CUI

C3829472;

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
- JAK2 Gene Mutation [NCIt concept]
gene_product_variant_of_gene_product
- Tyrosine-Protein Kinase JAK2 [NCIt concept]
molecular_abnormality_involves_gene
- JAK2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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