Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.I157F
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CHEK2

NM_007194.4:p.I157F

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

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM4_ESM.xlsx › BRCA2

Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care-Checking CHEK2.

Bychkovsky BL et al.

Jama Oncology, 2022

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