Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.S356*
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CHEK2

NM_007194.4:p.S356*

Associated Papers

Predisposition to hematopoietic malignancies by deleterious germline CHEK2 variants.

Stubbins RJ et al.

Leukemia, 2025

40335619 (PubMed )
Supplement: 41375_2025_2635_MOESM5_ESM.xls › CHEK2_Supplemental_Table_4_v25

The genomic and transcriptomic landscape of metastastic urothelial cancer.

Loriot Y et al.

Nature Communications, 2024

39366934 (PubMed )
Supplement: 41467_2024_52915_MOESM10_ESM.xlsx › SuppTable7_eMIBC-Somatic_alt

The genomic landscape of breast and non-breast cancers from individuals with germline CHEK2 deficiency.

Hinić S et al.

Jnci Cancer Spectrum, 2024

38848470 (PubMed )
Supplement: pkae044_supplementary_data.zip › JNCICS-24-0030R1_Supplementary_Table1_20.3.xlsx › Supplemental_Table_1

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.

Qin Z et al.

Life Science Alliance, 2022

35595529 (PubMed )
Supplement: LSA-2021-01319_TableS3.xlsx › S3A

Genomic landscape of metastatic papillary thyroid carcinoma and novel biomarkers for predicting distant metastasis.

Lan X et al.

Cancer Science, 2020

32187423 (PubMed )
Supplement: CAS-111-2163-s007.xlsx › ctDNA_table_thyroid

Identification and analysis of CHEK2 germline mutations in Chinese BRCA1/2-negative breast cancer patients.

Fan Z et al.

Breast Cancer Research and Treatment, 2018

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