The KCNQ2 gene homepage

General information
Gene symbol KCNQ2
Gene name potassium voltage-gated channel, KQT-like subfamily, member 2
Chromosome 20
Chromosomal band q13.33
Imprinted Unknown
Genomic reference NG_009004.1
Transcript reference NM_172107.2
Exon/intron information NM_172107.2 exon/intron table
Associated with diseases BFNS1, EIEE7, ID
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 284
Unique public DNA variants reported 234
Individuals with public variants 145
Hidden variants 13
Date created May 03, 2013
Date last updated May 09, 2022
Version KCNQ2:220509

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_172107.2.
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/KCNQ2
HGNC 6296
Entrez Gene 3785
PubMed articles KCNQ2
OMIM - Gene 602235
OMIM - Diseases BFNS1 (seizures, benign neonatal, type 1 (BFNS-1))
EIEE7 (encephalopathy, epileptic, early infantile, type 7 (EIEE-7))
HGMD KCNQ2
GeneCards KCNQ2
GeneTests KCNQ2
Orphanet KCNQ2


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023830 20 transcript variant 1 NM_172107.2 NP_742105.1 284


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