Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.A1162P
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MSH6

NM_000179.3:p.A1162P

Associated Papers

Retained mismatch repair protein expression occurs in approximately 6% of microsatellite instability-high cancers and is associated with missense mutations in mismatch repair genes.

Hechtman JF et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

Combined mismatch repair and POLE/POLD1 defects explain unresolved suspected Lynch syndrome cancers.

Jansen AM et al.

European Journal of Human Genetics : Ejhg, 2016

26648449 (PubMed )
Supplement: ejhg2015252x2.xlsx › Sheet1

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

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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."