The EPM2A gene homepage

General information
Gene symbol EPM2A
Gene name epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
Chromosome 6
Chromosomal band q24
Imprinted Unknown
Genomic reference NG_012832.1
Transcript reference NM_005670.3
Associated with diseases LD
Citation reference(s) -
Curators (1) Y Yang
Total number of public variants reported 63
Unique public DNA variants reported 50
Individuals with public variants 63
Hidden variants -
Date created December 28, 2014
Date last updated June 01, 2017
Version EPM2A:170601

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 3413
Entrez Gene 7957
PubMed articles EPM2A
OMIM - Gene 607566
OMIM - Diseases LD (Lafora Disease)
HGMD EPM2A
GeneCards EPM2A
GeneTests EPM2A


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000088 6 transcript variant 1 NM_005670.3 NP_005661.1 63


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