Varaico: Literature-Extracted Genetic Variants

Gene:MSH2
Variant:p.S323Y
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MSH2

NM_000251.3:p.S323Y

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

Classification of Amino Acid Substitutions in Mismatch Repair Proteins Using PON-MMR2.

Niroula A et al.

Human Mutation, 2015

26333163 (PubMed )
Supplement: supplement_1.pdf

Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.

Zhu M et al.

Oncology Letters, 2013

Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.

Gammie AE et al.

Genetics, 2007

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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."