Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.D438G
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CHEK2

NM_007194.4:p.D438G

Associated Papers

Comprehensive Evaluation of a 1021-Gene Panel in FFPE and Liquid Biopsy for Analytical and Clinical Use.

Meintani A et al.

International Journal of Molecular Sciences, 2025

40649709 (PubMed )
Supplement: ijms-26-05930-s001.zip › Supplementary_Table_2_and_Figure_S1.xlsx › Table_S3

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_

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

Molecular Basis of Inherited Colorectal Carcinomas in the Macedonian Population: An Update.

Staninova-Stojovska M et al.

Balkan Journal of Medical Genetics : Bjmg, 2019

Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.

Delimitsou A et al.

Human Mutation, 2019

Multigene testing of moderate-risk genes: be mindful of the missense.

Young EL et al.

Journal of Medical Genetics, 2016

26787654 (PubMed )
Supplement: jmedgenet-2015-103398-s2.pdf

Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study.

Le Calvez-Kelm F et al.

Breast Cancer Research : Bcr, 2011

21244692 (PubMed )
Supplement: bcr2810-S1.PDF
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