Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.K393M
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MSH2

NM_000251.3:p.K393M

Associated Papers

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

Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.

Del-Toro N et al.

Nature Communications, 2019

30602777 (PubMed )
Supplement: 41467_2018_7709_MOESM6_ESM.xlsx › Supplementary_data_3

Pathological assessment of mismatch repair gene variants in Lynch syndrome: past, present, and future.

Rasmussen LJ et al.

Human Mutation, 2012

Determining the functional significance of mismatch repair gene missense variants using biochemical and cellular assays.

Heinen CD et al.

Hereditary Cancer in Clinical Practice, 2012

Lynch syndrome-associated mutations in MSH2 alter DNA repair and checkpoint response functions in vivo.

Mastrocola AS et al.

Human Mutation, 2010

HNPCC mutations in hMSH2 result in reduced hMSH2-hMSH6 molecular switch functions.

Heinen CD et al.

Cancer Cell, 2002

Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer.

Guerrette S et al.

Molecular and Cellular Biology, 1998

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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."