Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.K488_M490delFs
Back to variants list

MLH1

NM_000249.4:p.K488_M490delFs

Associated Papers

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

Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

Buchanan DD et al.

Journal of Clinical Oncology : Official Journal of the American Society of Clinical Oncology, 2014

BRAFV600E immunohistochemistry facilitates universal screening of colorectal cancers for Lynch syndrome.

Toon CW et al.

The American Journal of Surgical Pathology, 2013

Immunohistochemical testing of conventional adenomas for loss of expression of mismatch repair proteins in Lynch syndrome mutation carriers: a case series from the Australasian site of the colon cancer family registry.

Walsh MD et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2012

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."