Varaico: Literature-Extracted Genetic Variants

Gene:MLH1
Variant:p.K618fs
Back to variants list

MLH1

NM_000249.4:p.K618fs

Associated Papers

Neuroendocrine neoplasms as a lynch syndrome manifestation: a case report and comprehensive literature review.

Bernal Zárate MP et al.

Frontiers in Endocrinology, 2025

Germline DNA Damage Repair Gene Alterations in Patients with Metachronous Breast and Colorectal Cancer.

Villacis RAR et al.

International Journal of Molecular Sciences, 2024

39408606 (PubMed )
Supplement: ijms-25-10275-s001.zip › Supplementary_Tables_-_Revised.xlsx › Table_S2

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

Clinicopathological and molecular characterization of Brazilian families at risk for Lynch syndrome.

de Paula AE et al.

Cancer Genetics, 2021

A survey of the clinicopathological and molecular characteristics of patients with suspected Lynch syndrome in Latin America.

Rossi BM et al.

Bmc Cancer, 2017

Germline Mutations in MLH1 Leading to Isolated Loss of PMS2 Expression in Lynch Syndrome: Implications for Diagnostics in the Clinic.

Silva FCC et al.

The American Journal of Surgical Pathology, 2017

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."