Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.Q51H
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CHEK2

NM_007194.4:p.Q51H

Associated Papers

Classification of Gene Variants in a Danish Population with Suspected Predisposition to Hereditary Breast and/or Ovarian Cancer.

Munch AK et al.

Cancers, 2025

40507299 (PubMed )
Supplement: cancers-17-01819-s001.zip › cancers-3594035-supplementary.pdf

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.s008.xlsx › All_SNVs_Data

A pan-cancer analysis of transcriptome changes associated with somatic mutations in U2AF1 reveals commonly altered splicing events.

Brooks AN et al.

Plos One, 2014

24498085 (PubMed )
Supplement: pone.0087361.s001.pdf

The association of sequence variants in DNA repair and cell cycle genes with cancers of the upper aerodigestive tract.

Hall J et al.

Carcinogenesis, 2007

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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."