Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.D609G
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ERCC2

NM_000400.4:p.D609G

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

41757092 (PubMed )
Supplement: media-1.pdf

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

Börcsök J et al.

The Journal of Clinical Investigation, 2025

Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.

Sakthikumar S et al.

Veterinary and Comparative Oncology, 2023

37248814 (PubMed )
Supplement: supplement_1.xlsx › Supp._Table_5

ERCC2 Helicase Domain Mutations Confer Nucleotide Excision Repair Deficiency and Drive Cisplatin Sensitivity in Muscle-Invasive Bladder Cancer.

Li Q et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

Somatic ERCC2 mutations are associated with a distinct genomic signature in urothelial tumors.

Kim J et al.

Nature Genetics, 2016

27111033 (PubMed )
Supplement: NIHMS774702-supplement-4.xlsx › COMB-279

Somatic ERCC2 mutations correlate with cisplatin sensitivity in muscle-invasive urothelial carcinoma.

Van Allen EM et al.

Cancer Discovery, 2014

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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."