Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.T46S
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ERCC2

NM_000400.4:p.T46S

Associated Papers

Identification of an ERCC2 mutation associated mutational signature of nucleotide excision repair deficiency in targeted panel sequencing data.

Stojkova O et al.

Biorxiv : the Preprint Server for Biology, 2026

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 › Figure1CD

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

Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication.

Tsutakawa SE et al.

Frontiers in Molecular Biosciences, 2021

34966786 (PubMed )
Supplement: Table3.XLSX › ERCC2
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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."