Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.E220D
Back to variants list

MSH6

NM_000179.3:p.E220D

Associated Papers

Lynch syndrome association and clinicopathological features in early-onset colorectal cancers: A single-center retrospective study.

Sür Y et al.

World Journal of Clinical Oncology, 2025

A Cell-Based Functional Assay Calibrated for Analysis of MSH6 and MSH2 Mismatch Repair Gene Variants.

Szabo E et al.

Human Mutation, 2025

Molecular and immunophenotypic characterization of SMARCB1 (INI1) - deficient intrathoracic Neoplasms.

Haberecker M et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

35864317 (PubMed )
Supplement: 41379_2022_1133_MOESM1_ESM.pdf

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

Frederiksen JH et al.

International Journal of Molecular Sciences, 2021

Two integrated and highly predictive functional analysis-based procedures for the classification of MSH6 variants in Lynch syndrome.

Drost M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Toward automation of germline variant curation in clinical cancer genetics.

Ravichandran V et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30787465 (PubMed )
Supplement: NIHMS1525468-supplement-Large_Excel_File.xlsx › Table_S6

A Bayesian framework for efficient and accurate variant prediction.

Qian D et al.

Plos One, 2018

30212499 (PubMed )
Supplement: pone.0203553.s008.xlsx › Variants

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

CoDP: predicting the impact of unclassified genetic variants in MSH6 by the combination of different properties of the protein.

Terui H et al.

Journal of Biomedical Science, 2013

Germ-line msh6 mutations in colorectal cancer families.

Kolodner RD et al.

Cancer Research, 1999

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."