Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.K604*
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MLH1

NM_000249.4:p.K604*

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 › 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

Comprehensive molecular analysis of mismatch repair gene defects in suspected Lynch syndrome (hereditary nonpolyposis colorectal cancer) cases.

Mueller J et al.

Cancer Research, 2009

Gene symbol: hMSH2. Disease: hereditary nonpolyposis colorectal cancer.

Otway R et al.

Human Genetics, 2005

Gene symbol: MLH1. Disease: Hereditary nonpolyposis colorectal cancer.

Otway R et al.

Human Genetics, 2005

Gene symbol: MLH1. Disease: Hereditary nonpolyposis colorectal cancer.

Otway R et al.

Human Genetics, 2005

Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.

Otway R et al.

Human Genetics, 2005

Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.

Otway R et al.

Human Genetics, 2005

Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.

Otway R et al.

Human Genetics, 2005

Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.

Otway R et al.

Human Genetics, 2005

Gene symbol: MSH2. Disease: Hereditary nonpolyposis colorectal cancer.

Otway R et al.

Human Genetics, 2005

Value of immunohistochemical detection of DNA mismatch repair proteins in predicting germline mutation in hereditary colorectal neoplasms.

Shia J et al.

The American Journal of Surgical Pathology, 2005

Evaluation of microsatellite instability and immunohistochemistry for the prediction of germ-line MSH2 and MLH1 mutations in hereditary nonpolyposis colon cancer families.

Wahlberg SS et al.

Cancer Research, 2002

Evaluation of enzymatic mutation detectiontrade mark in hereditary nonpolyposis colorectal cancer.

Otway R et al.

Human Mutation, 2000

Interpretation of genetic test results for hereditary nonpolyposis colorectal cancer: implications for clinical predisposition testing.

Syngal S et al.

Jama, 1999

Accurate, high-throughput "snapshot" detection of hMLH1 mutations by two-dimensional DNA electrophoresis.

Smith WM et al.

Genetic Testing, 1998

RNA-based mutation screening in hereditary nonpolyposis colorectal cancer.

Kohonen-Corish M et al.

American Journal of Human Genetics, 1996

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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."