Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.G665A
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ERCC2

NM_000400.4:p.G665A

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

40829180 (PubMed )
Supplement: jci-135-186688-s236.xlsx › Figure1CD

ERCC2 mutations alter the genomic distribution pattern of somatic mutations and are independently prognostic in bladder cancer.

Barbour JA et al.

Cell Genomics, 2024

Structure-based pathogenicity relationship identifier for predicting effects of single missense variants and discovery of higher-order cancer susceptibility clusters of mutations.

Wang B et al.

Briefings in Bioinformatics, 2023

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-279

Potentially functional SNPs (pfSNPs) as novel genomic predictors of 5-FU response in metastatic colorectal cancer patients.

Wang J et al.

Plos One, 2014

25372392 (PubMed )
Supplement: pone.0111694.s006.pdf
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