Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.R1217fs
Back to variants list

MSH6

NM_000179.3:p.R1217fs

Associated Papers

Mapping the Prevalence of Lynch Syndrome in the Ceará-Northeast of Brazil.

Dos Santos Luciano MC et al.

Clinical Genetics, 2025

Unraveling mutagenic processes influencing the tumor mutational patterns of individuals with constitutional mismatch repair deficiency.

Weijers DD et al.

Nature Communications, 2025

40368937 (PubMed )
Supplement: 41467_2025_59775_MOESM1_ESM.pdf

Discordant Staining Patterns and Microsatellite Results in Tumors of MSH6 Pathogenic Variant Carriers.

van der Werf-'t Lam AS et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2023

High Prevalence of Constitutional Mismatch Repair Deficiency in a Pediatric T-cell Lymphoblastic Lymphoma Cohort.

Kroeze E et al.

Hemasphere, 2022

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

Frederiksen JH et al.

International Journal of Molecular Sciences, 2021

34445333 (PubMed )
Supplement: ijms-22-08627-s001.zip › ijms-1268836-supplementary.xlsx › RNA_splicing

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

Mismatch repair gene mutation spectrum in the Swedish Lynch syndrome population.

Lagerstedt-Robinson K et al.

Oncology Reports, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."