RNF43 NP_060233.3:p.E318D

Preferred Label : RNF43 NP_060233.3:p.E318D;

NCIt synonyms : RNF43 NP_060233.3:p.Glu318Asp; RING-Type E3 Ubiquitin Transferase RNF43 Protein Variant E318D; RING-Type E3 Ubiquitin Transferase RNF43 Protein Variant Glu318Asp; E3 Ubiquitin-Protein Ligase RNF43 Protein Variant E318D; RNF43 E318D; E3 Ubiquitin-Protein Ligase RNF43 Protein Variant Glu318Asp; RNF43 p.E318D; Ring Finger Protein 43 Protein Variant E318D; RNF43 Glu318Asp; RNF43 p.Glu318Asp; Ring Finger Protein 43 Protein Variant Glu318Asp; NP_060233.3:p.E318D; RING Finger Protein 124 Protein Variant E318D; NP_060233.3:p.Glu318Asp; RING Finger Protein 124 Protein Variant Glu318Asp;

NCIt definition : A change in the amino acid residue at position 318 in the E3 ubiquitin-protein ligase RNF43 protein where glutamic acid has been replaced by aspartic acid.;

NCI Metathesaurus CUI : CL544951;

Details

Origin ID

C146981;

UMLS CUI

C4687624;

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.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) :

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