Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.Y156C
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CHEK2

NM_007194.4:p.Y156C

Associated Papers

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.s010.xlsx › All_Assays

A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

Sanz DJ et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2010

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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."