EXPH5 gene homepage

General information
Gene symbol EXPH5
Gene name exophilin 5
Chromosome 11
Chromosomal band q22.3
Imprinted Unknown
Genomic reference NG_042852.1
Transcript reference NM_015065.2
Exon/intron information NM_015065.2 exon/intron table
Associated with diseases EBNS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 7
Unique public DNA variants reported 7
Individuals with public variants 2
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated January 30, 2019
Version EXPH5:190130

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_015065.2.
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/EXPH5
HGNC 30578
Entrez Gene 23086
PubMed articles EXPH5
OMIM - Gene 612878
OMIM - Diseases EBNS (epidermolysis bullosa, nonspecific, autosomal recessive (EBNS))
HGMD EXPH5
GeneCards EXPH5
GeneTests EXPH5


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00007319 11 exophilin 5 NM_015065.2 NP_055880.2 7


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