Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.R69K
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MLH1

NM_000249.4:p.R69K

Associated Papers

Classification of MLH1 Missense VUS Using Protein Structure-Based Deep Learning-Ramachandran Plot-Molecular Dynamics Simulations Method.

Tam B et al.

International Journal of Molecular Sciences, 2024

38255924 (PubMed )
Supplement: ijms-25-00850-s001.zip › Supplementary_Table_S1.xlsx › Sheet1

Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.

Abildgaard AB et al.

Elife, 2019

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM7_ESM.xlsx › SD3_-_COSMIC_Mutations

Classification of mismatch repair gene missense variants with PON-MMR.

Ali H et al.

Human Mutation, 2012

The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.

Stehr H et al.

Molecular Cancer, 2011

21575214 (PubMed )
Supplement: 1476-4598-10-54-S3.XLS › mutations.txt

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.

Takahashi M et al.

Cancer Research, 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."