Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.R239H

KCNA1

409 papers

RefSeq Summary

This gene encodes a voltage-gated delayed potassium channel that is phylogenetically related to the Drosophila Shaker channel. The encoded protein has six putative transmembrane segments (S1-S6), and ...

Pfam Domains

BTB_2aa 39–130UCSCBTB/POZ domain
Ion_transaa 166–419UCSCIon transport protein

Gene Aliases

HGNC Name

potassium voltage-gated channel subfamily A member 1

HGNC Previous Symbol

AEMK

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000217.3
p.R239H
c.716G>A
Surrounding Variants
23 papers
NM_000217.3
p.R239S
c.715C>A
1 paper
NM_000217.3
p.R239C
c.715C>T
1 paper
NM_000217.3
p.F241I
c.721T>A
1 paper
NM_000217.3
p.F241L
c.723C>A
1 paper
NM_000217.3
p.V237M
c.709G>A
2 papers
NM_000217.3
p.A242T
c.724G>A
29 papers
NM_000217.3
p.A242P
c.724G>C
2 papers
NM_000217.3
p.A242S
c.724G>T
1 paper
NM_000217.3
p.E235E
c.705G>A
1 paper
NM_000217.3
p.E235D
c.705G>C
1 paper
NM_000217.3
p.E235D
c.705G>T
1 paper
NM_000217.3
p.C243G
c.727T>G
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