Preferred Label : ERCC2 NP_000391.1:p.F332V;
NCIt synonyms : TFIIH Basal Transcription Factor Complex Helicase XPD Subunit F332V; ERCC2 F332V; BTF2 p80 F332V; TFIIH subunit XPD F332V; ERCC2 p.F322V; General Transcription and DNA Repair Factor IIH Helicase Subunit XPD F332V; DNA Repair Protein Complementing XP-D Cells F332V; TFIIH 80 kDa Subunit F332V; NP_000391.1:p.Phe322Val; Basic Transcription Factor 2 80 kDa Subunit Phe332Val; CXPD Phe332Val; TFIIH Basal Transcription Factor Complex 80 kDa Subunit Phe332Val; NP_000391.1:p.F332V; Basic Transcription Factor 2 80 kDa Subunit F332V; DNA-Repair Protein XPD Phe332Val; CXPD F332V; Xeroderma Pigmentosum Group D-Complementing Protein Phe332Val; DNA Excision Repair Protein ERCC-2 Phe332Val; TFIIH Basal Transcription Factor Complex 80 kDa Subunit F332V; TFIIH p80 Phe332Val; DNA-Repair Protein XPD F332V; TFIIH Basal Transcription Factor Complex Helicase XPD Subunit Phe332Val; ERCC2 Phe322Val; ERCC2 p.Phe322Val; Xeroderma Pigmentosum Group D-Complementing Protein F332V; BTF2 p80 Phe332Val; TFIIH subunit XPD Phe332Val; ERCC2 NP_000391.1:p.Phe322Val; DNA Excision Repair Protein ERCC-2 F332V; General Transcription and DNA Repair Factor IIH Helicase Subunit XPD Phe332Val; DNA Repair Protein Complementing XP-D Cells Phe332Val; TFIIH p80 F332V; TFIIH 80 kDa Subunit Phe332Val;
NCIt definition : A change in the amino acid residue at position 332 in the general transcription and
DNA repair factor IIH helicase subunit XPD protein where phenylalanine has been replaced
by valine.;
NCI Metathesaurus CUI : CL978835;
PubMed : 31026031;
Origin ID : C165565;
UMLS CUI : C5237274;
Semantic type(s)
- gene_product_variant_of_gene_product
- molecular_abnormality_involves_gene
