Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.A247D
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CHEK2

NM_007194.4:p.A247D

Associated Papers

Comprehensive Analysis of Human Colorectal Cancers Harboring Polymerase Epsilon Mutations.

Gibson LM et al.

International Journal of Molecular Sciences, 2025

40806338 (PubMed )
Supplement: ijms-26-07208-s001.zip › Table_S2.xlsx › Colorectal_CHASM_p-values

Comparative analysis of the Mexico City Prospective Study and the UK Biobank identifies ancestry-specific effects on clonal hematopoiesis.

Wen S et al.

Nature Genetics, 2025

39948438 (PubMed )
Supplement: 41588_2025_2085_MOESM4_ESM.xlsx › ST22

A missense variant effect map for the human tumor-suppressor protein CHK2.

Gebbia M et al.

American Journal of Human Genetics, 2024

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

Stolarova L et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023

ATM kinase inhibitor AZD0156 in combination with irinotecan and 5-fluorouracil in preclinical models of colorectal cancer.

Davis SL et al.

Bmc Cancer, 2022

36309653 (PubMed )
Supplement: 12885_2022_10084_MOESM1_ESM.pdf

Mutation profiles in circulating cell-free DNA predict acquired resistance to olaparib in high-grade serous ovarian carcinoma.

Hu D et al.

Cancer Science, 2022

35661486 (PubMed )
Supplement: CAS-113-2849-s005.xlsx › Sheet1

Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk.

Boonen RACM et al.

Cancer Research, 2022

Multi-omics of 34 colorectal cancer cell lines - a resource for biomedical studies.

Berg KCG et al.

Molecular Cancer, 2017

28683746 (PubMed )
Supplement: 12943_2017_691_MOESM1_ESM.xlsx › Table_S5

Clarifying the biological significance of the CHK2 K373E somatic mutation discovered in The Cancer Genome Atlas database.

Higashiguchi M et al.

Febs Letters, 2016

Potentiation of the novel topoisomerase I inhibitor indenoisoquinoline LMP-400 by the cell checkpoint and Chk1-Chk2 inhibitor AZD7762.

Aris SM et al.

Cancer Research, 2012

CHEK2 genomic and proteomic analyses reveal genetic inactivation or endogenous activation across the 60 cell lines of the US National Cancer Institute.

Zoppoli G et al.

Oncogene, 2012

Deleterious CHEK2 1100delC and L303X mutants identified among 38 human breast cancer cell lines.

Wasielewski M et al.

Breast Cancer Research and Treatment, 2009

Genetic and functional analysis of CHEK2 (CHK2) variants in multiethnic cohorts.

Bell DW et al.

International Journal of Cancer, 2007

Stability of checkpoint kinase 2 is regulated via phosphorylation at serine 456.

Kass EM et al.

The Journal of Biological Chemistry, 2007

Depletion of CHK1, but not CHK2, induces chromosomal instability and breaks at common fragile sites.

Durkin SG et al.

Oncogene, 2006

CHK2-decreased protein expression and infrequent genetic alterations mainly occur in aggressive types of non-Hodgkin lymphomas.

Tort F et al.

Blood, 2002

Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome.

Lee SB et al.

Cancer Research, 2001

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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."