The KCNA1 gene homepage

General information
Gene symbol KCNA1
Gene name potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)
Chromosome 12
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_011815.1
Transcript reference NM_000217.2
Exon/intron information NM_000217.2 exon/intron table
Associated with diseases EA1
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 41
Unique public DNA variants reported 31
Individuals with public variants 17
Hidden variants 2
Date created May 03, 2013
Date last updated November 01, 2022
Version KCNA1:221101

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_000217.2.
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
HGNC 6218
Entrez Gene 3736
PubMed articles KCNA1
OMIM - Gene 176260
OMIM - Diseases EA1 (ataxia, episodic, type 1 (EA-1))
Orphanet KCNA1

Active transcripts




NCBI ID     

NCBI Protein ID     

00010325 12 potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) NM_000217.2 NP_000208.2 41

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