Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.N166T
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CHEK2

NM_007194.4:p.N166T

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.s010.xlsx › All_Assays

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

Stolarova L et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

New Pathogenic Germline Variants in Very Early Onset and Familial Colorectal Cancer Patients.

Djursby M et al.

Frontiers in Genetics, 2020

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