RNF43 NP_060233.3:p.R127P

Preferred Label : RNF43 NP_060233.3:p.R127P;

NCIt synonyms : RING-Type E3 Ubiquitin Transferase RNF43 Protein Variant R127P; RING-Type E3 Ubiquitin Transferase RNF43 Protein Variant Arg127Pro; E3 Ubiquitin-Protein Ligase RNF43 Protein Variant R127P; E3 Ubiquitin-Protein Ligase RNF43 Protein Variant Arg127Pro; RNF43 R127P; RNF43 Arg127Pro; Ring Finger Protein 43 Protein Variant R127P; RNF43 p.R127P; RNF43 p.Arg127Pro; Ring Finger Protein 43 Protein Variant Arg127Pro; NP_060233.3:p.R127P; NP_060233.3:p.Arg127Pro; RING Finger Protein 124 Protein Variant R127P; RING Finger Protein 124 Protein Variant Arg127Pro; RNF43 NP_060233.3:p.Arg127Pro;

NCIt definition : A change in the amino acid residue at position 127 in the E3 ubiquitin-protein ligase RNF43 protein where arginine has been replaced by proline.;

NCI Metathesaurus CUI : CL544959;

Details

Origin ID

C146973;

UMLS CUI

C4688592;

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]
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) :

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