Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.R1334W
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MSH6

NM_000179.3:p.R1334W

Associated Papers

PERSEUS1: An Open-label, Investigator-initiated, Single arm, Phase 2 Trial Testing the Efficacy of Pembrolizumab in Patients with Metastatic Castration-resistant Prostate Cancer with Mismatch Repair Deficiency and Other Immune-sensitive Molecular Subtypes.

Rescigno P et al.

European Urology Oncology, 2025

SpliceAI-10k calculator for the prediction of pseudoexonization, intron retention, and exon deletion.

Canson DM et al.

Bioinformatics (oxford, England), 2023

37021934 (PubMed )
Supplement: btad179_supplementary_data.zip › SAI10kcalc_supp_tables_final.xlsx › S1.variants

The Somatic Mutational Landscape of Mismatch Repair Deficient Prostate Cancer.

Fang B et al.

Journal of Clinical Medicine, 2023

36675550 (PubMed )
Supplement: jcm-12-00623-s001.zip › Supplementary_Tables.pdf

High Tumor Mutation Burden and Other Immunotherapy Response Predictors in Breast Cancers: Associations and Therapeutic Opportunities.

Voutsadakis IA

Targeted Oncology, 2020

Immunogenicity and Immune Silence in Human Cancer.

Yarmarkovich M et al.

Frontiers in Immunology, 2020

32256484 (PubMed )
Supplement: Table_4.XLSX › TCGA_HLAs_and_mutations

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Thompson BA et al.

Frontiers in Genetics, 2020

32849802 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_3

A plugin for the Ensembl Variant Effect Predictor that uses MaxEntScan to predict variant spliceogenicity.

Shamsani J et al.

Bioinformatics (oxford, England), 2019

30475984 (PubMed )
Supplement: bty960_supplementary_data.zip › bty960-Suppl_data › Supplementary_Table_S1.xlsx › Sheet1

The role of the cancer stem cell marker CD271 in DNA damage response and drug resistance of melanoma cells.

Redmer T et al.

Oncogenesis, 2017

28112719 (PubMed )
Supplement: oncsis201688x25.xlsx › Tabelle1

Germline variants in POLE are associated with early onset mismatch repair deficient colorectal cancer.

Elsayed FA et al.

European Journal of Human Genetics : Ejhg, 2015

Genetic diagnosis of high-penetrance susceptibility for colorectal cancer (CRC) is achievable for a high proportion of familial CRC by exome sequencing.

Chubb D et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2015

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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."