Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.T46I
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ERCC2

NM_000400.4:p.T46I

Associated Papers

Quantitative functional profiling of ERCC2 mutations deciphers cisplatin sensitivity in bladder cancer.

Börcsök J et al.

The Journal of Clinical Investigation, 2025

40829180 (PubMed )
Supplement: jci-135-186688-s236.xlsx › SFigure5E-G

Detection of Cancer Mutations by Urine Liquid Biopsy as a Potential Tool in the Clinical Management of Bladder Cancer Patients.

Ibrahim NK et al.

Cancers, 2022

35205727 (PubMed )
Supplement: cancers-14-00969-s001.zip › cancers-1533743-Supplementary_Tables.xlsx › Table_S6

Restoration of nucleotide excision repair in a helicase-deficient XPD mutant from intragenic suppression by a trichothiodystrophy mutation.

George JW et al.

Molecular and Cellular Biology, 2001

Codominance associated with overexpression of certain XPD mutations.

Kadkhodayan S et al.

Mutation Research, 2001

Identification of ICR170-induced XPD mutations in UV-sensitive CHO cells.

Tebbs RS et al.

Environmental and Molecular Mutagenesis, 2001

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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."