Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.K365N
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CHEK2

NM_007194.4:p.K365N

Associated Papers

Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.

Stubbins RJ et al.

Leukemia, 2025

40335619 (PubMed )
Supplement: 41375_2025_2635_MOESM5_ESM.xls › CHEK2_Supplemental_Table_4_v25

Cell-free DNA from nail clippings as source of normal control for genomic studies in hematologic malignancies.

Krystel-Whittemore M et al.

Haematologica, 2024

38450530 (PubMed )
Supplement: 2024_285054_KRYSTEL-WHITTEMORE_SUPPL.pdf

Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants.

Sanoguera-Miralles L et al.

Clinical Chemistry, 2024

Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer.

Alba-Pavón P et al.

Cancers, 2022

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S3

Genetic and epigenetic analyses guided by high resolution whole-genome SNP array reveals a possible role of CHEK2 in Wilms tumour susceptibility.

Ciceri S et al.

Oncotarget, 2018

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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."