Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.A9V
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CHEK2

NM_007194.4:p.A9V

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

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

A novel molecular diagnostics platform for somatic and germline precision oncology.

Cabanillas R et al.

Molecular Genetics & Genomic Medicine, 2017

28717660 (PubMed )
Supplement: MGG3-5-336-s006.xlsx › Table_S12

Single nucleotide polymorphisms in noncoding regions of Rad51C do not change the risk of unselected breast cancer but they modulate the level of oxidative stress and the DNA damage characteristics: a case-control study.

Gresner P et al.

Plos One, 2014

Evaluation of RAD51C as cancer susceptibility gene in a large breast-ovarian cancer patient population referred for genetic testing.

De Leeneer K et al.

Breast Cancer Research and Treatment, 2012

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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."