XPC NP_004619.3:p.S346P

Preferred Label : XPC NP_004619.3:p.S346P;

NCIt synonyms : NP_004619.3:p.Ser346Pro; Xeroderma Pigmentosum Group C Protein S346P; XPC NP_004619.3:p.Ser346Pro; DNA Repair Protein Complementing XP-C Cells S346P; XPC S346P; XPC p.S346P; Xeroderma Pigmentosum Group C Protein Ser346Pro; NP_004619.3:p.S346P; DNA Repair Protein Complementing XP-C Cells Ser346Pro; XPC Ser346Pro; XPC p.Ser346Pro;

NCIt definition : A change in the amino acid residue at position 346 in the DNA repair protein complementing XP-C cells where serine has been replaced by proline.;

NCI Metathesaurus CUI : CL1379021;

PubMed : 31026031;

Details

Origin ID

C169091;

UMLS CUI

C5239379;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_product_variant_of_gene_product
- DNA Repair Protein Complementing XP-C Cells [NCIt concept]
molecular_abnormality_involves_gene
- XPC Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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