Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.H1248D
Back to variants list

MSH6

NM_000179.3:p.H1248D

Associated Papers

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

Frederiksen JH et al.

International Journal of Molecular Sciences, 2021

Comparative Analysis of Genetic Alterations, HPV-Status, and PD-L1 Expression in Neuroendocrine Carcinomas of the Cervix.

Takayanagi D et al.

Cancers, 2021

33802174 (PubMed )
Supplement: cancers-13-01215-s001.zip › Supplymentary_files › Supplymental_table.xlsx › TableS2

A novel heterozygous large deletion of MSH6 gene in a Chinese family with Lynch syndrome.

Liu Y et al.

Gene, 2019

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

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

Cyr JL et al.

The Journal of Biological Chemistry, 2008

Cadmium inhibits mismatch repair by blocking the ATPase activity of the MSH2-MSH6 complex.

Banerjee S et al.

Nucleic Acids Research, 2005

ATP increases the affinity between MutS ATPase domains. Implications for ATP hydrolysis and conformational changes.

Lamers MH et al.

The Journal of Biological Chemistry, 2004

Molecular and clinical characteristics of MSH6 variants: an analysis of 25 index carriers of a germline variant.

Berends MJ et al.

American Journal of Human Genetics, 2002

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."