Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.D368N
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CHEK2

NM_007194.4:p.D368N

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5

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

Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.

Wen S et al.

Nature Genetics, 2025

39948438 (PubMed )
Supplement: 41588_2025_2085_MOESM4_ESM.xlsx › ST22

Insights for precision oncology from the integration of genomic and clinical data of 13,880 tumors from the 100,000 Genomes Cancer Programme.

Sosinsky A et al.

Nature Medicine, 2024

38200255 (PubMed )
Supplement: 41591_2023_2682_MOESM3_ESM.xlsx › Table_S1

Clarifying the biological significance of the CHK2 K373E somatic mutation discovered in The Cancer Genome Atlas database.

Higashiguchi M et al.

Febs Letters, 2016

Rare germ line CHEK2 variants identified in breast cancer families encode proteins that show impaired activation.

Sodha N et al.

Cancer Research, 2006

Regulation of Chk2 phosphorylation by interaction with protein phosphatase 2A via its B' regulatory subunit.

Dozier C et al.

Biology of the Cell, 2004

Phosphorylation of threonine 68 promotes oligomerization and autophosphorylation of the Chk2 protein kinase via the forkhead-associated domain.

Ahn JY et al.

The Journal of Biological Chemistry, 2002

Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.

Lee SB et al.

Cancer Research, 2001

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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."