Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.D361D
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CHEK2

NM_007194.4:p.D361D

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

Comprehensive splicing analysis of the alternatively spliced CHEK2 exons 8 and 10 reveals three enhancer/silencer-rich regions and 38 spliceogenic variants.

Sanoguera-Miralles L et al.

The Journal of Pathology, 2024

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