Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.R128L
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MSH6

NM_000179.3:p.R128L

Associated Papers

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

Frederiksen JH et al.

International Journal of Molecular Sciences, 2021

Suspected Lynch syndrome associated MSH6 variants: A functional assay to determine their pathogenicity.

Houlleberghs H et al.

Plos Genetics, 2017

Decoding the histone code: Role of H3K36me3 in mismatch repair and implications for cancer susceptibility and therapy.

Li GM

Cancer Research, 2013

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

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

Kansikas M et al.

Human Mutation, 2011

Human mismatch repair protein MSH6 contains a PWWP domain that targets double stranded DNA.

Laguri C et al.

Biochemistry, 2008

Screening for Lynch syndrome (hereditary nonpolyposis colorectal cancer) among endometrial cancer patients.

Hampel H et al.

Cancer Research, 2006

MSH6 missense mutations are often associated with no or low cancer susceptibility.

Kariola R et al.

British Journal of Cancer, 2004

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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."