MUTYH gene homepage - CanVaS - A Greek Cancer Patient Genetic Variation Resource

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CanVaS - A Greek Cancer Patient Genetic Variation Resource

MUTYH (mutY DNA glycosylase)

LOVD v.3.0 Build 23 [ Current LOVD status ]
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	Curator: Despoina Kalfakakou

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MUTYH gene homepage

General information
Gene symbol	MUTYH
Gene name	mutY DNA glycosylase
Chromosome	1
Chromosomal band	p34.1
Imprinted	Unknown
Genomic reference	LRG_220
Transcript reference	NM_001048171.1, NM_001048172.1, NM_001048173.1, NM_001048174.1, NM_001128425.1, NM_012222.2
Associated with diseases	FAP2
Citation reference(s)	-
Curators (1)	Despoina Kalfakakou
Total number of public variants reported	277
Unique public DNA variants reported	76
Individuals with public variants	281
Hidden variants	0
Date created	May 20, 2020
Date last updated	December 23, 2020
Version	MUTYH:201223

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
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
HGNC	7527
Entrez Gene	4595
PubMed articles	MUTYH
OMIM - Gene	604933
OMIM - Diseases	FAP2 (Familial Adenomatous Polyposis 2)

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.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000135	1	mutY homolog (E. coli), transcript variant alpha1	NM_012222.2	NP_036354.1	277
00000136	1	mutY homolog (E. coli), transcript variant alpha3	NM_001048171.1	NP_001041636.1	277
00000137	1	mutY homolog (E. coli), transcript variant alpha5	NM_001128425.1	NP_001121897.1	277
00000138	1	mutY homolog (E. coli), transcript variant beta3	NM_001048174.1	NP_001041639.1	277
00000139	1	mutY homolog (E. coli), transcript variant gamma2	NM_001048172.1	NP_001041637.1	277
00000140	1	mutY homolog (E. coli), transcript variant gamma3	NM_001048173.1	NP_001041638.1	277

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