RNF43 NP_060233.3:p.D140E

Preferred Label : RNF43 NP_060233.3:p.D140E;

NCIt synonyms : Ring Finger Protein 43 Protein Variant Asp140Glu; RNF43 p.Asp140Glu; NP_060233.3:p.D140E; RING Finger Protein 124 Protein Variant D140E; NP_060233.3:p.Asp140Glu; RING Finger Protein 124 Protein Variant Asp140Glu; RING-Type E3 Ubiquitin Transferase RNF43 Protein Variant D140E; RNF43 NP_060233.3:p.Asp140Glu; RING-Type E3 Ubiquitin Transferase RNF43 Protein Variant Asp140Glu; E3 Ubiquitin-Protein Ligase RNF43 Protein Variant D140E; RNF43 D140E; E3 Ubiquitin-Protein Ligase RNF43 Protein Variant Asp140Glu; Ring Finger Protein 43 Protein Variant D140E; RNF43 p.D140E; RNF43 Asp140Glu;

NCIt definition : A change in the amino acid residue at position 140 in the E3 ubiquitin-protein ligase RNF43 protein where aspartic acid has been replaced by glutamic acid.;

NCI Metathesaurus CUI : CL544961;

Details

Origin ID

C146975;

UMLS CUI

C4687618;

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.420C>G [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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