Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.S285I
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MSH6

NM_000179.3:p.S285I

Associated Papers

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

Frederiksen JH et al.

International Journal of Molecular Sciences, 2021

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

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

Houlleberghs H et al.

Plos Genetics, 2017

The neXtProt knowledgebase on human proteins: 2017 update.

Gaudet P et al.

Nucleic Acids Research, 2017

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

Sub-cellular localization analysis of MSH6 missense mutations does not reveal an overt MSH6 nuclear transport impairment.

Belvederesi L et al.

Familial Cancer, 2012

Cooperative nuclear localization sequences lend a novel role to the N-terminal region of MSH6.

Gassman NR et al.

Plos One, 2011

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

Hereditary cancer-associated missense mutations in hMSH6 uncouple ATP hydrolysis from DNA mismatch binding.

Cyr JL et al.

The Journal of Biological Chemistry, 2008

DNA mismatch repair defects: role in colorectal carcinogenesis.

Jacob S et al.

Biochimie, 2002

Germ-line msh6 mutations in colorectal cancer families.

Kolodner RD et al.

Cancer Research, 1999

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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."