Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.H112D
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MLH1

NM_000249.4:p.H112D

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

A calibrated cell-based functional assay to aid classification of MLH1 DNA mismatch repair gene variants.

Rath A et al.

Human Mutation, 2022

The MLH1 ATPase domain is needed for suppressing aberrant formation of interstitial telomeric sequences.

Jia P et al.

Dna Repair, 2018

Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair.

Plotz G et al.

Nucleic Acids Research, 2006

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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."