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LOVD MSH2 homepage

General information
Gene name MutS homolog 2, ex-UVs
Gene symbol MSH2
Chromosome Location 2p21
Database location Tavtigian lab - Huntsman Cancer Institute
Curator Bryony Thompson
PubMed references View all (unique) PubMed references in the MSH2 database
Date of creation February 03, 2012
Last update March 20, 2015
Version MSH2 150320
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Genomic refseq ID NC_000002.11
Transcript refseq ID NM_000251.1
Total number of unique DNA variants reported 105
Total number of individuals with variant(s) 105
Total number of variants reported 105
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the MSH2 database, sorted by type of variant (with graphical displays and statistics)
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the MSH2 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the MSH2 database
Variants with no known pathogenicity Listing of all MSH2 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the MSH2 database in tab-delimited text format.

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
HGNC 7325
Entrez Gene 4436
OMIM - Gene 609309
OMIM - Disease #1 MutS, E. Coli, Homolog Of, 2 (MSH2)
OMIM - Disease #2 Mismatch Repair Cancer Syndrome
OMIM - Disease #3 Neurofibromatosis, Type I (NF1)
OMIM - Disease #4 Muir-Torre Syndrome (MTS)
OMIM - Disease #5 Glioma Susceptibility 1 (GLM1), Glioma Of Brain, Familial, Included
OMIM - Disease #6 Lynch Syndrome I, Lynch Syndrome II, Included
OMIM - Disease #7 Cafe-au-lait Spots, Multiple
UniProtKB (SwissProt/TrEMBL) P43246

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