Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.L582V
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MLH1

NM_000249.4:p.L582V

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

Personalized medicine with germline pathogenic variants: Importance of population- and region-wide evidence.

Usui Y et al.

Cancer Science, 2023

Rare germline variants in pancreatic cancer and multiple primary cancers: an autopsy study.

Fujitani H et al.

European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2023

36896836 (PubMed )
Supplement: ejcp-32-286-s002.pdf

Mesothelioma developing in carriers of inherited genetic mutations.

Yoshikawa Y et al.

Translational Lung Cancer Research, 2020

Computational and cellular studies reveal structural destabilization and degradation of MLH1 variants in Lynch syndrome.

Abildgaard AB et al.

Elife, 2019

Germline mutations in cancer-predisposition genes in patients with biliary tract cancer.

Terashima T et al.

Oncotarget, 2019

31666926 (PubMed )
Supplement: oncotarget-10-5949-s002.xlsx › Table_S3

Germline mismatch repair gene variants analyzed by universal sequencing in Japanese cancer patients.

Kiyozumi Y et al.

Cancer Medicine, 2019

31386297 (PubMed )
Supplement: CAM4-8-5534-s001.xlsx › Suppllemental_file_1_

International society for gastrointestinal hereditary tumours-InSiGHT.

Unknown Author

Familial Cancer, 2019

BioCreative VI Precision Medicine Track system performance is constrained by entity recognition and variations in corpus characteristics.

Chen Q et al.

Database : the Journal of Biological Databases and Curation, 2018

Profiling cancer-associated genetic alterations and molecular classification of cancer in Korean gastric cancer patients.

Kim Y et al.

Oncotarget, 2017

Integrated analysis of cancer-related pathways affected by genetic and epigenetic alterations in gastric cancer.

Yoda Y et al.

Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2015

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.

Olfson E et al.

Plos One, 2015

26332594 (PubMed )
Supplement: pone.0135193.s002.xls › Sheet1

Missense mutations of MLH1 and MSH2 genes detected in patients with gastrointestinal cancer are associated with exonic splicing enhancers and silencers.

Zhu M et al.

Oncology Letters, 2013

Comprehensive DNA methylation and extensive mutation analyses reveal an association between the CpG island methylator phenotype and oncogenic mutations in gastric cancers.

Kim JG et al.

Cancer Letters, 2013

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

Ali H et al.

Human Mutation, 2012

A CRM1-dependent nuclear export pathway is involved in the regulation of MutLα subcellular localization.

Brieger A et al.

Genes, Chromosomes & Cancer, 2011

Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays.

Takahashi M et al.

Cancer Research, 2007

The interaction of DNA mismatch repair proteins with human exonuclease I.

Schmutte C et al.

The Journal of Biological Chemistry, 2001

The interaction of the human MutL homologues in hereditary nonpolyposis colon cancer.

Guerrette S et al.

The Journal of Biological Chemistry, 1999

Human exonuclease I interacts with the mismatch repair protein hMSH2.

Schmutte C et al.

Cancer Research, 1998

Functional analysis of human MLH1 mutations in Saccharomyces cerevisiae.

Shimodaira H et al.

Nature Genetics, 1998

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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."