Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.E668K
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MLH1

NM_000249.4:p.E668K

Associated Papers

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

Rare single-nucleotide variants of MLH1 and MSH2 genes in patients with Lynch syndrome.

Mirabdolhosseini SM et al.

Cancer Reports (hoboken, N.j.), 2024

Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.

Zhang L et al.

Journal of Medical Genetics, 2022

34172528 (PubMed )
Supplement: jmedgenet-2021-107886supp003.xlsx › MLH1

Scarce evidence of the causal role of germline mutations in UNC5C in hereditary colorectal cancer and polyposis.

Mur P et al.

Scientific Reports, 2016

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

Ali H et al.

Human Mutation, 2012

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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."