Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.M1K
Back to variants list

CHEK2

NM_007194.4:p.M1K

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.s008.xlsx › All_SNVs_Data

Targeted gene panels identify a high frequency of pathogenic germline variants in patients diagnosed with a hematological malignancy and at least one other independent cancer.

Singhal D et al.

Leukemia, 2021

Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing.

Rohlin A et al.

Familial Cancer, 2017

Germline mutations in DNA repair genes may predict neoadjuvant therapy response in triple negative breast patients.

Spugnesi L et al.

Genes, Chromosomes & Cancer, 2016

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."