Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.V25I
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CHEK2

NM_007194.4:p.V25I

Associated Papers

Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.

Berg T et al.

Neoplasia (new York, N.y.), 2025

40121945 (PubMed )
Supplement: mmc5.xlsx › Ark1

Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2.

McCarthy-Leo CE et al.

Plos Genetics, 2024

39146382 (PubMed )
Supplement: pgen.1011375.s008.xlsx › All_SNVs_Data

p53 Dysregulation in Breast Cancer: Insights on Mutations in the TP53 Network and p53 Isoform Expression.

Steffens Reinhardt L et al.

International Journal of Molecular Sciences, 2023

Somatic inactivation of breast cancer predisposition genes in tumors associated with pathogenic germline variants.

Lim BWX et al.

Journal of the National Cancer Institute, 2023

36315097 (PubMed )
Supplement: djac196_supplementary_data.zip › djac196_Supplementary_Data › JNCI-22-0201R4_Campbell_Supplementary_Tables_1-5_101822.xlsx › Supp_Table2_CHEK2_MS

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S17

A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Chen S et al.

Genome Research, 2022

34963661 (PubMed )
Supplement: supp_gr.275437.121_Supplementary_Table_1.xlsx › Non-recurrent_variants

Computational analysis of high-risk SNPs in human CHK2 gene responsible for hereditary breast cancer: A functional and structural impact.

Badgujar NV et al.

Plos One, 2019

Polymorphism of UBC9 gene encoding the SUMO-E2-conjugating enzyme and breast cancer risk.

Wozniak K et al.

Pathology Oncology Research : Por, 2014

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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."