Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.K670R
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MLH1

NM_000249.4:p.K670R

Associated Papers

A scalable approach to resolving variants of uncertain significance.

Tejura M et al.

Biorxiv : the Preprint Server for Biology, 2026

41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP

Disentangling the mutational effects on protein stability and interaction of human MLH1.

Larsen-Ledet S et al.

Plos Genetics, 2025

40294053 (PubMed )
Supplement: pgen.1011681.s018.xlsx › ClinVar_gnomAD_data

Targeted sequencing of genes associated with the mismatch repair pathway in patients with endometrial cancer.

Singh AK et al.

Plos One, 2020

Comprehensive mismatch repair gene panel identifies variants in patients with Lynch-like syndrome.

Xavier A et al.

Molecular Genetics & Genomic Medicine, 2019

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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."