Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.S246Y
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ERCC2

NM_000400.4:p.S246Y

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

Integrating evidence from protein domains to identify cancer driver mutations.

Ostroverkhova D et al.

Protein Science : a Publication of the Protein Society, 2026

41556616 (PubMed )
Supplement: PRO-35-e70422-s002.xlsx › Table_S1

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

Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.

Sobahy TM et al.

Bmc Medical Genomics, 2022

35468810 (PubMed )
Supplement: 12920_2022_1235_MOESM3_ESM.xlsx › OncoKB_unspecified-alterations.

RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.

Long Q et al.

Frontiers in Genetics, 2022

35846154 (PubMed )
Supplement: Table3.XLSX › BLCA_RNA_DNA_overlap

Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.

Vandekerkhove G et al.

Nature Communications, 2021

33420073 (PubMed )
Supplement: 41467_2020_20493_MOESM3_ESM.xlsx › Supplementary_Data_4

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

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

Genomic characterization of response to chemoradiation in urothelial bladder cancer.

Desai NB et al.

Cancer, 2016

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-MI-242
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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."