The EMC1 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol EMC1
Gene name ER membrane protein complex subunit 1
Chromosome 1
Chromosomal band p36.13
Imprinted Unknown
Genomic reference NG_032948.1
Transcript reference NM_015047.2
Exon/intron information NM_015047.2 exon/intron table
Associated with diseases CAVIPMR
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 106
Unique public DNA variants reported 84
Individuals with public variants 2734
Hidden variants 8
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created September 24, 2012
Date last updated February 26, 2024
Version EMC1:240226

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_015047.2.
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/EMC1
HGNC 28957
Entrez Gene 23065
PubMed articles EMC1
OMIM - Gene 616846
OMIM - Diseases CAVIPMR (atrophy, cerebellar, visual impairment, psychomotor retardation (CAVIPMR))
HGMD EMC1
GeneCards EMC1
GeneTests EMC1
Orphanet EMC1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007061 1 transcript variant 1 NM_015047.2 NP_055862.1 106


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