The MUTYH gene homepage


General information
Gene symbol MUTYH
Gene name mutY homolog (E. coli)
Chromosome 1
Chromosomal band p34.1
Imprinted Unknown
Genomic reference LRG_220
Transcript reference NM_001128425.1
Exon/intron information NM_001128425.1 exon/intron table
Associated with diseases cancer, gastric, FAP-2, HDGC, pilomatrixoma
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Carli Tops and Ian Frayling
Total number of public variants reported 3646
Unique public DNA variants reported 628
Individuals with public variants 11017
Hidden variants 122
Notes Aliases: MYH; CYP2C; MGC4416; RP4-534D1.2
this is one of the InSiGHT gene variant databases.
We want to gratefully acknowledge Astrid Out (until 2014) and Johan den Dunnen (until 2018) for helping to curate the database.
Date created May 03, 2013
Date last updated June 17, 2021
Version MUTYH:210617

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_001128425.1.
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 https://www.LOVD.nl/MUTYH
HGNC 7527
Entrez Gene 4595
PubMed articles MUTYH
OMIM - Gene 604933
OMIM - Diseases cancer, gastric (cancer, gastric (Neoplasm of stomach))
FAP-2 (adenomatous polyposis, familial, type 2 (FAP-2, adenomas, colorectal))
HDGC (cancer, gastric, hereditary diffuse (HDGC))
pilomatrixoma
HGMD MUTYH
GeneCards MUTYH
GeneTests MUTYH
Orphanet MUTYH


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023838 1 transcript variant alpha5 NM_001128425.1 NP_001121897.1 3646


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 © 2013-2021. 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.

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