Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.E81*
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CHEK2

NM_007194.4:p.E81*

Associated Papers

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

Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer.

Herold N et al.

Cancer Medicine, 2023

37345881 (PubMed )
Supplement: CAM4-12-15256-s001.xlsx › Table_S1

Germline Pathogenic Variants in Homologous Recombination and DNA Repair Genes in an Asian Cohort of Young-Onset Colorectal Cancer.

Toh MR et al.

Jnci Cancer Spectrum, 2018

31360874 (PubMed )
Supplement: pky054_supp.docx
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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."