Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.G674A
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MSH2

NM_000251.3:p.G674A

Associated Papers

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

Frederiksen JH et al.

International Journal of Molecular Sciences, 2021

Mispair-bound human MutS-MutL complex triggers DNA incisions and activates mismatch repair.

Ortega J et al.

Cell Research, 2021

Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk.

Jia X et al.

American Journal of Human Genetics, 2021

33357406 (PubMed )
Supplement: mmc2.xlsx › TableS4_ValidationSet

Functional interrogation of Lynch syndrome-associated MSH2 missense variants via CRISPR-Cas9 gene editing in human embryonic stem cells.

Rath A et al.

Human Mutation, 2019

Methylation Tolerance-Based Functional Assay to Assess Variants of Unknown Significance in the MLH1 and MSH2 Genes and Identify Patients With Lynch Syndrome.

Bouvet D et al.

Gastroenterology, 2019

Differential genomic destabilisation in human cells with pathogenic MSH2 mutations introduced by genome editing.

Hayashida G et al.

Experimental Cell Research, 2019

Oligonucleotide-directed mutagenesis screen to identify pathogenic Lynch syndrome-associated MSH2 DNA mismatch repair gene variants.

Houlleberghs H et al.

Proceedings of the National Academy of Sciences of the United States of America, 2016

Mutations in the nucleotide binding and hydrolysis domains of Helicobacter pylori MutS2 lead to altered biochemical activities and inactivation of its in vivo function.

Damke PP et al.

Bmc Microbiology, 2016

Mouse models of DNA mismatch repair in cancer research.

Lee K et al.

Dna Repair, 2016

Antibody diversification caused by disrupted mismatch repair and promiscuous DNA polymerases.

Zanotti KJ et al.

Dna Repair, 2016

The UvrD303 hyper-helicase exhibits increased processivity.

Meiners MJ et al.

The Journal of Biological Chemistry, 2014

The dual nature of mismatch repair as antimutator and mutator: for better or for worse.

Bak ST et al.

Frontiers in Genetics, 2014

Mutation rates, spectra, and genome-wide distribution of spontaneous mutations in mismatch repair deficient yeast.

Lang GI et al.

G3 (bethesda, Md.), 2013

Biochemical analysis of the human mismatch repair proteins hMutSα MSH2(G674A)-MSH6 and MSH2-MSH6(T1219D).

Geng H et al.

The Journal of Biological Chemistry, 2012

Mismatch-mediated error prone repair at the immunoglobulin genes.

Chahwan R et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2011

Conformational trapping of mismatch recognition complex MSH2/MSH3 on repair-resistant DNA loops.

Lang WH et al.

Proceedings of the National Academy of Sciences of the United States of America, 2011

Mismatch and base excision repair proficiency in murine embryonic stem cells.

Tichy ED et al.

Dna Repair, 2011

Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants.

Kansikas M et al.

Human Mutation, 2011

An MLH1 mutation links BACH1/FANCJ to colon cancer, signaling, and insight toward directed therapy.

Xie J et al.

Cancer Prevention Research (philadelphia, Pa.), 2010

Making sense of missense in Lynch syndrome: the clinical perspective.

Lynch HT et al.

Cancer Prevention Research (philadelphia, Pa.), 2010

Assessing the link between BACH1/FANCJ and MLH1 in DNA crosslink repair.

Cantor SB et al.

Environmental and Molecular Mutagenesis, 2010

An Msh2 conditional knockout mouse for studying intestinal cancer and testing anticancer agents.

Kucherlapati MH et al.

Gastroenterology, 2010

Preservation of genomic integrity in mouse embryonic stem cells.

Stambrook PJ et al.

Advances in Experimental Medicine and Biology, 2010

The concerted action of Msh2 and UNG stimulates somatic hypermutation at A . T base pairs.

Frieder D et al.

Molecular and Cellular Biology, 2009

MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice.

Tomé S et al.

Plos Genetics, 2009

Mechanisms of pathogenicity in human MSH2 missense mutants.

Ollila S et al.

Human Mutation, 2008

Functional analysis of HNPCC-related missense mutations in MSH2.

Lützen A et al.

Mutation Research, 2008

The DNA-mismatch repair enzyme hMSH2 modulates UV-B-induced cell cycle arrest and apoptosis in melanoma cells.

Seifert M et al.

The Journal of Investigative Dermatology, 2008

Identification of murine B cell lines that undergo somatic hypermutation focused to A:T and G:C residues.

Bhattacharya P et al.

European Journal of Immunology, 2008

Signalling cell cycle arrest and cell death through the MMR System.

O'Brien V et al.

Carcinogenesis, 2006

Mutations in the nucleotide-binding domain of MutS homologs uncouple cell death from cell survival.

Drotschmann K et al.

Dna Repair, 2004

An Msh2 point mutation uncouples DNA mismatch repair and apoptosis.

Lin DP et al.

Cancer Research, 2004

DNA mismatch repair: molecular mechanism, cancer, and ageing.

Hsieh P et al.

Mechanisms of Ageing and Development, 0

Acidic tumor microenvironment downregulates hMLH1 but does not diminish 5-fluorouracil chemosensitivity.

Iwaizumi M et al.

Mutation Research, 0

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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."