The MLH3 gene homepage

General information
Gene symbol MLH3
Gene name mutL homolog 3 (E. coli)
Chromosome 14
Chromosomal band q24.3
Imprinted Not imprinted
Genomic reference LRG_217
Transcript reference NM_001040108.1
Exon/intron information NM_001040108.1 exon/intron table
Associated with diseases CRC, HNPCC, HNPCC1 (Lynch), HNPCC7, cancer, endometrial
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) InSiGHT - John-Paul Plazzer
Total number of public variants reported 364
Unique public DNA variants reported 97
Individuals with public variants 430
Hidden variants 3
Notes this is one of the InSiGHT gene variant databases.
We sincerely thank the George Hicks Foundation for their generous support of the curation of the InSiGHT database from 2010 to 2012. We are grateful for the ongoing funding for curation which is provided by the Royal Melbourne Hospital foundation.
NOTE: this database was initiated by merging entries from the MMR, InSiGHT and MMRUV databases (for links see the gene homepage). We want to gratefully acknowledge Amanda Dohey (Woods laboratory) to get this work done. We also want to thank Johan den Dunnen (until 2018) for helping to curate the database.
Date created January 01, 2008
Date last updated August 15, 2022
Version MLH3:220815

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001040108.1.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
External URL InSiGHT
MMRUV Groningen
HGNC 7128
Entrez Gene 27030
PubMed articles MLH3
OMIM - Gene 604395
OMIM - Diseases CRC (cancer, colorectal, susceptibility to (CRC))
HNPCC1 (Lynch) (cancer, colorectal, nonpolyposis, hereditary, type 1 (HNPCC-1, Lynch syndrome))
HNPCC7 (cancer, colorectal, nonpolyposis, hereditary, type 7 (HNPCC-7))
cancer, endometrial
GeneCards MLH3
GeneTests MLH3
Orphanet MLH3

Active transcripts




NCBI ID     

NCBI Protein ID     

00023959 14 transcript variant 1 NM_001040108.1 NP_001035197.1 364

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2008-2022. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.