Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.D347A
Back to variants list

CHEK2

NM_007194.4:p.D347A

Associated Papers

WDFY2 promotes MRN complex formation required for homologous recombination-mediated DNA repair.

Lu YF et al.

Cell Reports, 2025

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5

Evolution of Potentially Actionable Genomic Alterations in Advanced Prostate Cancer: A Real-World Analysis of Serial Circulating Tumor DNA Testing.

Muniz M et al.

Cancers, 2025

Comprehensive analysis of the functional impact of single nucleotide variants of human CHEK2.

McCarthy-Leo CE et al.

Plos Genetics, 2024

Impaired end joining induces cardiac atrophy in a Hutchinson-Gilford progeria mouse model.

Chen Y et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

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

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

Boonen RACM et al.

Cancer Research, 2022

Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Cancer.

Wappenschmidt B et al.

Geburtshilfe Und Frauenheilkunde, 2020

Chk2-dependent phosphorylation of myosin phosphatase targeting subunit 1 (MYPT1) regulates centrosome maturation.

Nai S et al.

Cell Cycle (georgetown, Tex.), 2019

A pathway linking translation stress to checkpoint kinase 2 signaling in Neurospora crassa.

Diernfellner ACR et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Functional characterization of CHEK2 variants in a Saccharomyces cerevisiae system.

Delimitsou A et al.

Human Mutation, 2019

CHK2-mediated regulation of PARP1 in oxidative DNA damage response.

Hsu PC et al.

Oncogene, 2019

Response to DNA damage of CHEK2 missense mutations in familial breast cancer.

Roeb W et al.

Human Molecular Genetics, 2012

Roles of Kruppel-associated Box (KRAB)-associated Co-repressor KAP1 Ser-473 Phosphorylation in DNA Damage Response.

Hu C et al.

The Journal of Biological Chemistry, 2012

A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese women.

Liu Y et al.

Human Mutation, 2011

The Role of Wild-Type p53 in Cisplatin-Induced Chk2 Phosphorylation and the Inhibition of Platinum Resistance with a Chk2 Inhibitor.

Liang X et al.

Chemotherapy Research and Practice, 2011

The CHK2-BRCA1 tumour suppressor pathway ensures chromosomal stability in human somatic cells.

Stolz A et al.

Nature Cell Biology, 2010

Negative regulation of CHK2 activity by protein phosphatase 2A is modulated by DNA damage.

Freeman AK et al.

Cell Cycle (georgetown, Tex.), 2010

The cell cycle checkpoint kinase CHK2 mediates DNA damage-induced stabilization of TTK/hMps1.

Yeh YH et al.

Oncogene, 2009

Chk2 oligomerization studied by phosphopeptide ligation: implications for regulation and phosphodependent interactions.

Li J et al.

The Journal of Biological Chemistry, 2008

Differential roles for checkpoint kinases in DNA damage-dependent degradation of the Cdc25A protein phosphatase.

Jin J et al.

The Journal of Biological Chemistry, 2008

Chk2 suppresses the oncogenic potential of DNA replication-associated DNA damage.

Stracker TH et al.

Molecular Cell, 2008

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

Mammary tumorigenesis following transgenic expression of a dominant negative CHK2 mutant.

Kwak EL et al.

Cancer Research, 2006

p53-independent regulation of p21Waf1/Cip1 expression and senescence by Chk2.

Aliouat-Denis CM et al.

Molecular Cancer Research : Mcr, 2005

DNA damage checkpoint kinase Chk2 triggers replicative senescence.

Gire V et al.

The Embo Journal, 2004

Polo-like kinase 1 and Chk2 interact and co-localize to centrosomes and the midbody.

Tsvetkov L et al.

The Journal of Biological Chemistry, 2003

Checkpoint kinase 2 (Chk2) monomers or dimers phosphorylate Cdc25C after DNA damage regardless of threonine 68 phosphorylation.

Ahn J et al.

The Journal of Biological Chemistry, 2002

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."