Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.R631C
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ERCC2

NM_000400.4:p.R631C

Associated Papers

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

C to U RNA editing of MFN1 is regulated by ADARB1 and associates with favourable prognosis in chronic lymphocytic leukemia.

Gonzalez Martinez A et al.

Scientific Reports, 2025

40813454 (PubMed )
Supplement: 41598_2025_15666_MOESM2_ESM.xlsx › Tabelle1

Clinicogenomic landscape of pancreatic adenocarcinoma identifies KRAS mutant dosage as prognostic of overall survival.

Varghese AM et al.

Nature Medicine, 2025

39753968 (PubMed )
Supplement: 41591_2024_3362_MOESM2_ESM.xlsx › SupplementaryTable2_IMPACT_Alts

Clinicopathologic and Molecular Analysis of 15 Pediatric and Young Adult Patients with High-Grade Non-anaplastic Thyroid Carcinoma.

Whaley RD et al.

Endocrine Pathology, 2024

Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.

Subasri V et al.

Cancer Research Communications, 2023

37377903 (PubMed )
Supplement: crc-22-0402-s04.xlsx › A._Class3_SNVs_indels

Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry.

Dumont M et al.

Cancers, 2022

35884425 (PubMed )
Supplement: cancers-14-03363-s001.zip › Table_S5-final_16052022.xlsx › Table_S5B

Spectrum and management of breast cancer patients with variant of uncertain significance mutations at a tertiary care centre in North India.

Mittal A et al.

Ecancermedicalscience, 2022

Exome sequencing of familial adenomatous polyposis-like individuals identifies both known and novel causative genes.

Xavier A et al.

Clinical Genetics, 2021

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

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Henn J et al.

Hereditary Cancer in Clinical Practice, 2019

30680046 (PubMed )
Supplement: 13053_2018_102_MOESM5_ESM.xlsx › 192_Variants

Identification of Damaging nsSNVs in HumanERCC2 Gene.

Fang S et al.

Chemical Biology & Drug Design, 2016

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer.

Rump A et al.

Plos Genetics, 2016

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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."