Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.D21N

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.D21N
c.61G>A
Surrounding Variants
1 paper
NM_000217.3
p.D21Y
c.61G>T
1 paper
NM_000217.3
p.Q20H
c.60G>C
1 paper
NM_000217.3
p.Q20H
c.60G>T
1 paper
NM_000217.3
p.Q20R
c.59A>G
1 paper
NM_000217.3
p.Q20K
c.58C>A
1 paper
NM_000217.3
p.Q20*
c.58C>T
1 paper
NM_000217.3
p.P19A
c.55C>G
1 paper
NM_000217.3
p.H18P
c.53A>C
1 paper
NM_000217.3
p.H18R
c.53A>G
1 paper
NM_000217.3
p.S23_Y24insFs
c.69_70insT
1 paper
NM_000217.3
p.Y24H
c.70T>C
1 paper
NM_000217.3
p.P25S
c.73C>T
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