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C165565Level 5

ERCC2 NP_000391.1:p.F332V

**Semantic type:** Cell or Molecular Dysfunction

**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332 in the general transcription and DNA repair factor IIH helicase subunit XPD protein where phenylalanine has been replaced by valine.

**Synonyms:** - BTF2 p80 F332V - BTF2 p80 Phe332Val - Basic Transcription Factor 2 80 kDa Subunit F332V - Basic Transcription Factor 2 80 kDa Subunit Phe332Val - CXPD F332V - CXPD Phe332Val - DNA Excision Repair Protein ERCC-2 F332V - DNA Excision Repair Protein ERCC-2 Phe332Val - DNA Repair Protein Complementing XP-D Cells F332V - DNA Repair Protein Complementing XP-D Cells Phe332Val - DNA-Repair Protein XPD F332V - DNA-Repair Protein XPD Phe332Val - ERCC2 F332V - ERCC2 NP_000391.1:p.Phe322Val - ERCC2 Phe322Val - ERCC2 p.F322V - ERCC2 p.Phe322Val - General Transcription and DNA Repair Factor IIH Helicase Subunit XPD F332V - General Transcription and DNA Repair Factor IIH Helicase Subunit XPD Phe332Val - NP_000391.1:p.F332V - NP_000391.1:p.Phe322Val - TFIIH 80 kDa Subunit F332V - TFIIH 80 kDa Subunit Phe332Val - TFIIH Basal Transcription Factor Complex 80 kDa Subunit F332V - TFIIH Basal Transcription Factor Complex 80 kDa Subunit Phe332Val - TFIIH Basal Transcription Factor Complex Helicase XPD Subunit F332V - TFIIH Basal Transcription Factor Complex Helicase XPD Subunit Phe332Val - TFIIH p80 F332V - TFIIH p80 Phe332Val - TFIIH subunit XPD F332V - TFIIH subunit XPD Phe332Val - Xeroderma Pigmentosum Group D-Complementing Protein F332V - Xeroderma Pigmentosum Group D-Complementing Protein Phe332Val

GET/api/v1/systems/nci_thesaurus/nodes/C165565
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