Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.R227fs
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MSH2

NM_000251.3:p.R227fs

Associated Papers

Integrative Multi-omic Classification Reveals Distinct Origins and Evolutionary Trajectories of Thymic Epithelial Tumors.

Park S et al.

Cancer Research, 2026

MSH2, MSH6, MLH1, and PMS2 immunohistochemistry as highly sensitive screening method for DNA mismatch repair deficiency syndromes in pediatric high-grade glioma.

Friker LL et al.

Acta Neuropathologica, 2025

39894875 (PubMed )
Supplement: 401_2025_2846_MOESM1_ESM.xlsx › Sheet1

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations

Clinical Impact of Detecting Low-Frequency Variants in Cell-Free DNA on Treatment of Castration-Resistant Prostate Cancer.

Mizuno K et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2021

34526361 (PubMed )
Supplement: 10780432ccr212328-sup-268178_2_supp_7341418_qy5jxd.pdf

The molecular characteristics of high-grade gastroenteropancreatic neuroendocrine neoplasms.

Venizelos A et al.

Endocrine-related Cancer, 2021

34647903 (PubMed )
Supplement: supplementary_table_4.xlsx › Targetable_in_NEC

Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.

Carmi S et al.

Nature Communications, 2014

25203624 (PubMed )
Supplement: ncomms5835-s5.xlsx › List_of_all_discovered_variants
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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."