Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.S268L
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MSH2

NM_000251.3:p.S268L

Associated Papers

Mitochondrial defects and metabolic vulnerabilities in Lynch syndrome-associated MSH2-deficient endometrial cancer.

Bowen MB et al.

Jci Insight, 2025

39964762 (PubMed )
Supplement: jciinsight-10-185946-s270.xlsx › MSH2KOm00all_Paired_ANNOVARSNVs

Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.

Padigepati SR et al.

Human Genetics, 2024

39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › MSH2

All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.

Holm LL et al.

Nucleic Acids Research, 2024

38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB

Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.

Zhunussova G et al.

Oncotarget, 2023

37791908 (PubMed )
Supplement: oncotarget-14-28518-s004.xlsx › Supplementary_Table_3

Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

White JA et al.

Cancer Research Communications, 2022

36922933 (PubMed )
Supplement: crc-22-0136-s01.xlsx › ST1_Known_Germline_Variants

Large-scale comparative evaluation of user-friendly tools for predicting variant-induced alterations of splicing regulatory elements.

Tubeuf H et al.

Human Mutation, 2020

Novel Genetic Markers for Early Detection of Elevated Breast Cancer Risk in Women.

Wu B et al.

International Journal of Molecular Sciences, 2019

Competitive evolution of NSCLC tumor clones and the drug resistance mechanism of first-generation EGFR-TKIs in Chinese NSCLC patients.

Deng Q et al.

Heliyon, 2018

30603682 (PubMed )
Supplement: mmc2.xlsx › Raw_reads_info
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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."