Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.D245N
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ERCC2

NM_000400.4:p.D245N

Associated Papers

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

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

Mutational Analysis of 472 Urothelial Carcinoma Across Grades and Anatomic Sites.

Nassar AH et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2019

30593515 (PubMed )
Supplement: 10780432ccr183147-sup-209386_2_supp_5192871_ptz639.xlsx › S1.3_Raw_SNV_and_small_indels

Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Yehia L et al.

Plos Genetics, 2018

29684080 (PubMed )
Supplement: pgen.1007352.s010.xlsx › S9_Table

Genetic analysis of microglandular adenosis and acinic cell carcinomas of the breast provides evidence for the existence of a low-grade triple-negative breast neoplasia family.

Geyer FC et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2017

27713419 (PubMed )
Supplement: NIHMS807185-supplement-8.pdf

Microglandular adenosis associated with triple-negative breast cancer is a neoplastic lesion of triple-negative phenotype harbouring TP53 somatic mutations.

Guerini-Rocco E et al.

The Journal of Pathology, 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."