Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.W666*
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MLH1

NM_000249.4:p.W666*

Associated Papers

Pathogenic variation in human DNA damage repair genes was originated from the evolutionary process of modern humans.

Li J et al.

Genes & Diseases, 2026

41624906 (PubMed )
Supplement: mmc1.xlsx › Sheet1

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 › Replicate_correlation

The mutational landscape and actionable targets of gallbladder cancer: an ancestry-informed and comparative analysis of a Chilean population.

Erices JI et al.

Frontiers in Oncology, 2025

Pathogenic variants in human DNA damage repair genes mostly arose in recent human history.

Zhao B et al.

Bmc Cancer, 2024

38575974 (PubMed )
Supplement: 12885_2024_12160_MOESM6_ESM.xlsx › Sheet1

Evolutionary origin of germline pathogenic variants in human DNA mismatch repair genes.

Lei H et al.

Human Genomics, 2024

38287404 (PubMed )
Supplement: 40246_2024_573_MOESM3_ESM.xls › MLH1

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table6.XLSX › Sheet1

Clinical and Molecular Features of Skin Malignancies in Muir-Torre Syndrome.

Simic D et al.

Genes, 2021

Establishment and characterization of 18 human colorectal cancer cell lines.

Kim SC et al.

Scientific Reports, 2020

Mutation spectrum in South American Lynch syndrome families.

Dominguez-Valentin M et al.

Hereditary Cancer in Clinical Practice, 2013

Genomic deletions in MSH2 or MLH1 are a frequent cause of hereditary non-polyposis colorectal cancer: identification of novel and recurrent deletions by MLPA.

Taylor CF et al.

Human Mutation, 2003

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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."