Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.Q487_D488Splc
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CHEK2

NM_007194.4:p.Q487_D488Splc

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

Genomic Ascertainment of CHEK2-Related Cancer Predisposition.

Kim SY et al.

Jama Network Open, 2025

41396600 (PubMed )
Supplement: jamanetwopen-e2549730-s002.xlsx › eTable1

Molecular and In Silico Analysis of the CHEK2 Gene in Individuals with High Risk of Cancer Predisposition from Türkiye.

Ozdemir O et al.

Cancers, 2024

39594831 (PubMed )
Supplement: cancers-16-03876-s001.zip › TableS2.xlsx › CHEK2_SuppTable2__1_

Genomic ascertainment of CHEK2-related cancer predisposition.

Kim SY et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39371170 (PubMed )
Supplement: media-6.xlsx › Supp_Table1

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Mian A et al.

Bjui Compass, 2023

36816149 (PubMed )
Supplement: BCO2-4-156-s001.xlsx › sTable_1

Analysis of hereditary cancer syndromes by using a panel of genes: novel and multiple pathogenic mutations.

Tsaousis GN et al.

Bmc Cancer, 2019

31159747 (PubMed )
Supplement: 12885_2019_5756_MOESM3_ESM.xlsx › Supplementary_Table_S2

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes.

Castéra L et al.

European Journal of Human Genetics : Ejhg, 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."