Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.G116R
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CHEK2

NM_007194.4:p.G116R

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.s009.xlsx › CHEK2_Protein_Variants

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

Mutation profiles in circulating cell-free DNA predict acquired resistance to olaparib in high-grade serous ovarian carcinoma.

Hu D et al.

Cancer Science, 2022

35661486 (PubMed )
Supplement: CAS-113-2849-s005.xlsx › Sheet1

Defective homologous recombination DNA repair as therapeutic target in advanced chordoma.

Gröschel S et al.

Nature Communications, 2019

30967556 (PubMed )
Supplement: 41467_2019_9633_MOESM3_ESM.xlsx › SNVs
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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."