Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.W851R
Back to variants list

ERCC6

NM_000124.4:p.W851R

Associated Papers

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.

Corbett RJ et al.

Nature Communications, 2025

41271695 (PubMed )
Supplement: 41467_2025_65190_MOESM6_ESM.xlsx › snv-indel-plp-summary

Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.

Corbett RJ et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

39974082 (PubMed )
Supplement: media-5.xlsx › TableS4A-snv-indel-plp-summary

CSB and SMARCAL1 compete for RPA32 at stalled forks and differentially control the fate of stalled forks in BRCA2-deficient cells.

Batenburg NL et al.

Nucleic Acids Research, 2024

Role of Cockayne Syndrome Group B Protein in Replication Stress: Implications for Cancer Therapy.

Walker JR et al.

International Journal of Molecular Sciences, 2022

Cockayne syndrome group B protein uses its DNA translocase activity to promote mitotic DNA synthesis.

Cui S et al.

Dna Repair, 2022

Mechanism of Rad26-assisted rescue of stalled RNA polymerase II in transcription-coupled repair.

Yan C et al.

Nature Communications, 2021

34853308 (PubMed )
Supplement: 41467_2021_27295_MOESM1_ESM.pdf

Current and emerging roles of Cockayne syndrome group B (CSB) protein.

Tiwari V et al.

Nucleic Acids Research, 2021

CSB cooperates with SMARCAL1 to maintain telomere stability in ALT cells.

Feng E et al.

Journal of Cell Science, 2020

CSB interacts with BRCA1 in late S/G2 to promote MRN- and CtIP-mediated DNA end resection.

Batenburg NL et al.

Nucleic Acids Research, 2019

Targeted exome analysis identifies the genetic basis of disease in over 50% of patients with a wide range of ataxia-related phenotypes.

Sun M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.

Calmels N et al.

Journal of Medical Genetics, 2018

Cockayne Syndrome Misdiagnosed as Cerebral Palsy.

Vafaee A et al.

Iranian Journal of Child Neurology, 2018

ATM and CDK2 control chromatin remodeler CSB to inhibit RIF1 in DSB repair pathway choice.

Batenburg NL et al.

Nature Communications, 2017

Cockayne syndrome group B protein regulates DNA double-strand break repair and checkpoint activation.

Batenburg NL et al.

The Embo Journal, 2015

Mammalian transcription-coupled excision repair.

Vermeulen W et al.

Cold Spring Harbor Perspectives in Biology, 2013

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.

Laugel V et al.

Human Mutation, 2010

Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.

Cleaver JE et al.

Nature Reviews. Genetics, 2009

Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome.

Mallery DL et al.

American Journal of Human Genetics, 1998

Structure, function and regulation of CSB: a multi-talented gymnast.

Lake RJ et al.

Mechanisms of Ageing and Development, 0

Cockayne syndrome pathogenesis: lessons from mouse models.

Jaarsma D et al.

Mechanisms of Ageing and Development, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."