The KCNE1L gene homepage

NOTE: gene symbol was recently changed from KCNE1L to KCNE5
General information
Gene symbol KCNE1L
Gene name KCNE1-like
Chromosome X
Chromosomal band q22.3
Imprinted Unknown
Genomic reference NC_000023.10
Transcript reference NM_012282.2
Exon/intron information NM_012282.2 exon/intron table
Associated with diseases -
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 16
Unique public DNA variants reported 12
Individuals with public variants 21
Hidden variants 1
Download all this gene's data Download all data
Notes NOTE: gene symbol was recently changed from KCNE1L to KCNE5
Establishment of the database was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created March 06, 2009
Date last updated February 15, 2023
Version KCNE1L:230215

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_012282.2.
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 http://www.LOVD.nl/KCNE5
HGNC 6241
Entrez Gene 23630
PubMed articles KCNE1L
OMIM - Gene 300328
HGMD KCNE1L
GeneCards KCNE1L
GeneTests KCNE1L
Orphanet KCNE1L


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000661 X KCNE1-like NM_012282.2 NP_036414.1 16


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