Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.R248fs
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MSH6

NM_000179.3:p.R248fs

Associated Papers

Combined analysis of somatic mutations and gene expression reveals nuclear speckles-associated enhanced stemness in gingivobuccal carcinoma under DNA damage response.

Kumar S et al.

Computational Biology and Chemistry, 2025

40424937 (PubMed )
Supplement: 1-s2.0-S1476927125001732-mmc1.pdf

An open-label, phase IB/II study of abemaciclib with paclitaxel for tumors with CDK4/6 pathway genomic alterations.

Kim KH et al.

Esmo Open, 2025

39874900 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Frequency and Molecular Characteristics of Mismatch Repair-deficient Status among Multiple Synchronous Colorectal Cancers.

Chikatani K et al.

Journal of the Anus, Rectum and Colon, 2025

Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence.

Hassanin E et al.

Bmc Medical Genomics, 2023

36872334 (PubMed )
Supplement: 12920_2023_1469_MOESM1_ESM.xlsx › Sheet1

Saturation-scale functional evidence supports clinical variant interpretation in Lynch syndrome.

Scott A et al.

Genome Biology, 2022

36550560 (PubMed )
Supplement: 13059_2022_2839_MOESM4_ESM.xlsx › msh2_som_mis_suppl

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_10.xlsx › Sheet1

The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.

Yang Y et al.

Bmc Cancer, 2022

Association of Breast and Ovarian Cancers With Predisposition Genes Identified by Large-Scale Sequencing.

Lu HM et al.

Jama Oncology, 2019

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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."