KCNQ1 gene homepage

General information
Gene symbol KCNQ1
Gene name potassium voltage-gated channel, KQT-like subfamily, member 1
Chromosome 11
Chromosomal band p15.5
Imprinted Imprinted, paternal
Genomic reference LRG_287
Transcript reference NM_000218.2
Exon/intron information NM_000218.2 exon/intron table
Associated with diseases ATFB-3, JLNS-1, LQT-1, SQT-2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 1067
Unique public DNA variants reported 511
Individuals with public variants 2077
Hidden variants 1
Download all this gene's data Download all data
Date created May 03, 2013
Date last updated November 03, 2018
Version KCNQ1:181103

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_000218.2.
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/KCNQ1
HGNC 6294
Entrez Gene 3784
PubMed articles KCNQ1
OMIM - Gene 607542
OMIM - Diseases ATFB-3 (fibrillation, atrial, familial, type 3 (ATFB-3))
JLNS-1 (Jervell and Lange-Nielsen syndrome (JLNS-1))
SQT-2 (QT syndrome, short, type 2 (SQT-2))
GeneCards KCNQ1
GeneTests KCNQ1

Active transcripts




NCBI ID     

NCBI Protein ID     

00010411 11 transcript variant 1 NM_000218.2 NP_000209.2 1067

Copyright & disclaimer
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