LOVD KCNE1 homepage

General information
Gene name potassium voltage-gated channel, Isk-related family, member 1
Gene symbol KCNE1
Chromosome Location 21q22.12
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the KCNE1 database
Date of creation January 10, 2007
Last update April 23, 2010
Version KCNE1 100423
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 38
Total number of individuals with variant(s) 2
Total number of variants reported 39
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the KCNE1 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the KCNE1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the KCNE1 database
Variants with no known pathogenicity Listing of all KCNE1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the KCNE1 database in tab-delimited text format.

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
Entrez Gene 3753
OMIM - Gene 176261
UniProtKB (SwissProt/TrEMBL) P15382
GeneCards KCNE1
GeneTests KCNE1
External link #1 Deafness Gene Mutation Database
External link #2 The Hereditary Hearing loss Homepage
External link #3 Gene Connection for the Heart
External link #4 Reference mRNA NM_000219.2
External link #5 Reference protien NP_000210.2

For research use. Husami et al. 2006-2010