RNF43 Protein Variant

Preferred Label : RNF43 Protein Variant;

NCIt synonyms : RING-Type E3 Ubiquitin Transferase RNF43 Protein Variant; E3 Ubiquitin-Protein Ligase RNF43 Protein Variant; RING Finger Protein 124 Protein Variant; Ring Finger Protein 43 Protein Variant;

NCIt definition : A variation in the amino acid sequence for E3 ubiquitin-protein ligase RNF43.;

NCI Metathesaurus CUI : CL544957;

Details

Origin ID

C146971;

UMLS CUI

C4687615;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_product_sequence_variation_encoded_by_gene_mutant
- RNF43 Gene Mutation [NCIt concept]
- RNF43 NM_017763.5:c.380G>C [NCIt concept]
- RNF43 NM_017763.5:c.420C>G [NCIt concept]
- RNF43 NM_017763.5:c.461C>T [NCIt concept]
- RNF43 NM_017763.5:c.505G>A [NCIt concept]
- RNF43 NM_017763.5:c.954G>T [NCIt concept]
gene_product_variant_of_gene_product
- E3 Ubiquitin-Protein Ligase RNF43 [NCIt concept]
molecular_abnormality_involves_gene
- RNF43 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients