Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.E479fs
Back to variants list

CHEK2

NM_007194.4:p.E479fs

Associated Papers

Genomic Ascertainment of CHEK2-Related Cancer Predisposition.

Kim SY et al.

Jama Network Open, 2025

41396600 (PubMed )
Supplement: jamanetwopen-e2549730-s002.xlsx › eTable1

Genomic ascertainment of CHEK2-related cancer predisposition.

Kim SY et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

39371170 (PubMed )
Supplement: media-6.xlsx › Supp_Table1

Landscape of potential germline pathogenic variants in select cancer susceptibility genes in patients with adult-type ovarian granulosa cell tumors.

Summey RM et al.

Cancer Medicine, 2024

Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).

Hanson H et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."