Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.T480A
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ERCC2

NM_000400.4:p.T480A

Associated Papers

A microglia clonal inflammatory disorder in Alzheimer's disease.

Vicario R et al.

Elife, 2025

40085681 (PubMed )
Supplement: elife-96519-supp3.xlsx › ALL-SNV

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

Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma.

Sun G et al.

Nature Communications, 2021

34489456 (PubMed )
Supplement: 41467_2021_25618_MOESM6_ESM.xlsx › Somatic_mutations

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
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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."