Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.K464delFs
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CHEK2

NM_007194.4:p.K464delFs

Associated Papers

Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations.

Zhang H et al.

International Journal of Cancer, 2025

Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.

Stubbins RJ et al.

Leukemia, 2025

40335619 (PubMed )
Supplement: 41375_2025_2635_MOESM3_ESM.xls › CHEK2_Supplemental_Table_2_v25

Germline predisposition in multiple myeloma.

Martins Rodrigues F et al.

Iscience, 2025

39845416 (PubMed )
Supplement: mmc3.xlsx › S2H.Vars_clinic_WES_Family

Whole genome sequencing refines stratification and therapy of patients with clear cell renal cell carcinoma.

Culliford R et al.

Nature Communications, 2024

39009593 (PubMed )
Supplement: 41467_2024_49692_MOESM4_ESM.xlsx › Supp._Data_3

Germline testing of BRCA1, BRCA2, PALB2 and CHEK2 c.1100delC in 1514 triple negative familial and isolated breast cancers from a single centre, with extended testing of ATM, RAD51C and RAD51D in over 400.

Woodward ER et al.

Journal of Medical Genetics, 2024

Frequency of pathogenic germline variants in cancer susceptibility genes in 1336 renal cell carcinoma cases.

Yngvadottir B et al.

Human Molecular Genetics, 2022

35441217 (PubMed )
Supplement: hmg_supplementary_tables_1_2_5_6_revised_ddac089.xlsx › SuppTable1A
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