Varaico: Literature-Extracted Genetic Variants

Gene:GTF2H3
Variant:p.D234N
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GTF2H3

NM_001516.5:p.D234N

Associated Papers

Nucleotide Excision Repair: Insights into Canonical and Emerging Functions of the Transcription/DNA Repair Factor TFIIH.

Zachayus A et al.

Genes, 2025

Dynamic conformational switching underlies TFIIH function in transcription and DNA repair and impacts genetic diseases.

Yu J et al.

Nature Communications, 2023

XPB and XPD helicases in TFIIH orchestrate DNA duplex opening and damage verification to coordinate repair with transcription and cell cycle via CAK kinase.

Fuss JO et al.

Dna Repair, 2011

A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.

Cleaver JE et al.

Human Mutation, 1999

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."