Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.Q700*
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MLH1

NM_000249.4:p.Q700*

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

DNA Mismatch Repair Gene Mosaicism Is Rare in People With Mismatch Repair-Deficient Cancers.

Walker R et al.

Gastroenterology, 2025

39788211 (PubMed )
Supplement: NIHMS2077496-supplement-1.xlsx › Supplementary_Table_2

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

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

MSH6 and MUTYH deficiency is a frequent event in early-onset colorectal cancer.

Giráldez MD et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2010

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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."