Varaico: Literature-Extracted Genetic Variants

Gene:CHEK2
Variant:p.E321K
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CHEK2

NM_007194.4:p.E321K

Associated Papers

CHEK2 germline variants identified in familial nonmedullary thyroid cancer lead to impaired protein structure and function.

Pires C et al.

The Journal of Biological Chemistry, 2024

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1

Susceptibility Genes and Chromosomal Regions Associated With Non-Syndromic Familial Non-Medullary Thyroid Carcinoma: Some Pathogenetic and Diagnostic Keys.

Sánchez-Ares M et al.

Frontiers in Endocrinology, 2022

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes.

Henn J et al.

Hereditary Cancer in Clinical Practice, 2019

Characterization of CHEK2 mutations in prostate cancer.

Wu X et al.

Human Mutation, 2006

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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."