The MSH6 gene homepage

MSH6 variants classified by the InSiGHT consortium: criteria used for classification are available here. We encourage submission of relevant unpublished information to assist in the classification of variants via LOVD or this template which can be emailed to the curator.

General information
Gene symbol	MSH6
Gene name	mutS homolog 6 (E. coli)
Chromosome	2
Chromosomal band	p16
Imprinted	Unknown
Genomic reference	LRG_219
Transcript reference	NM_000179.2
Exon/intron information	NM_000179.2 exon/intron table
Associated with diseases	HNPCC, HNPCC1 (Lynch), HNPCC5, MMRCS, Adenoma sebaceum, cancer, endometrial
Citation reference(s)	-
Refseq URL	Genomic reference sequence
Curators (3)	InSiGHT - John-Paul Plazzer, Mev Dominguez Valentin, and Bryony A Thompson
Total number of public variants reported	5446
Unique public DNA variants reported	1849
Individuals with public variants	5204
Hidden variants	57
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	June 11, 2007
Date last updated	March 24, 2025
Version	MSH6:250324

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_000179.2.
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	https://www.LOVD.nl/MSH6
External URL	Woods MMR databases InSiGHT MMRUV Groningen
HGNC	HGNC:7329
Entrez Gene	2956
PubMed articles	MSH6
OMIM - Gene	600678
OMIM - Diseases	HNPCC1 (Lynch) (cancer, colorectal, nonpolyposis, hereditary, type 1 (HNPCC-1, Lynch syndrome)) HNPCC5 (cancer, colorectal, nonpolyposis, hereditary, type 5 (HNPCC-5)) MMRCS (cancer syndrome, mismatch repair (MMRCS)) cancer, endometrial
HGMD	MSH6
GeneCards	MSH6
NIH Genetic Testing Registry	MSH6
Orphanet	MSH6

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00001468	2	mutS homolog 6 (E. coli)	NM_000179.2	NP_000170.1	5446

Copyright & disclaimer
All contents of this database are protected by local and international copyright laws. The information is submitted for the purpose of sharing genetic and clinical information. Genetic variants listed may or may not have a causal association with disease phenotypes, irrespective of stated classifications or other information presented in the database. All information in this database, including variant classifications, is subject to change and there is no warranty, express or implied, as to its accuracy, completeness, or fitness for a particular purpose. Use of this database and information is subject to User responsibility and discretion. Clinical decisions regarding individual patient care should be carried out in conjunction with a healthcare professional with expertise in the relevant genes and diseases. We do not accept any liability for any injury, loss or damage incurred by use of or reliance on the information provided by this database. Database submitters are required to adhere to their institution's rules for data sharing, and local and national laws. Personal identifiers should not be submitted. Submitters retain the rights to use and edit their data. Database curators may curate data to ensure that database formatting and quality standards are met. They may also share their submitted data with external parties for research purposes or for sharing with other databases. Use of the data is for clinical diagnostic purposes. Use for research requires permission from the curator in conjunction with submitters' approval. InSiGHT expects that use of the data for commercial operations should be accompanied by payment commensurate to this use.

Global Variome shared LOVD

MSH6 (mutS homolog 6 (E. coli))