Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.C121Y
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CHEK2

NM_007194.4:p.C121Y

Associated Papers

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 into the genetic landscape of pheochromocytomas and paragangliomas in a Brazilian cohort.

Fagundes GFC et al.

European Journal of Endocrinology, 2025

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

Comprehensive analysis of germline mutations in northern Brazil: a panel of 16 genes for hereditary cancer-predisposing syndrome investigation.

Vidal AF et al.

Bmc Cancer, 2021

33827469 (PubMed )
Supplement: 12885_2021_8089_MOESM2_ESM.xlsx › Plan1

Efficacy of immunotherapy in lung cancer with co-occurring mutations in NOTCH and homologous repair genes.

Mazzotta M et al.

Journal for Immunotherapy of Cancer, 2020

32759236 (PubMed )
Supplement: jitc-2020-000946supp001.xlsx › all_prediction_score_merged
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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."