Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.E161A
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CHEK2

NM_007194.4:p.E161A

Associated Papers

Clinical syndromes linked to biallelic germline variants in MCM8 and MCM9.

Helderman NC et al.

Hgg Advances, 2025

40684266 (PubMed )
Supplement: mmc3.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.s010.xlsx › All_Assays

BRCA-deficient metastatic prostate cancer has an adverse prognosis and distinct genomic phenotype.

Fettke H et al.

Ebiomedicine, 2023

37549632 (PubMed )
Supplement: mmc1.xlsx › ST8

Clinical and genomic insights into circulating tumor DNA-based alterations across the spectrum of metastatic hormone-sensitive and castrate-resistant prostate cancer.

Kohli M et al.

Ebiomedicine, 2020

32268276 (PubMed )
Supplement: mmc5.xlsx › cfDNA_SNV
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