Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.A28V

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.A28V
c.83C>T
Surrounding Variants
1 paper
NM_000217.3
p.A28G
c.83C>G
3 papers
NM_000217.3
p.R26W
c.76C>T
1 paper
NM_000217.3
p.P25L
c.74C>T
1 paper
NM_000217.3
p.P25S
c.73C>T
1 paper
NM_000217.3
p.D32H
c.94G>C
1 paper
NM_000217.3
p.D32Y
c.94G>T
1 paper
NM_000217.3
p.Y24H
c.70T>C
1 paper
NM_000217.3
p.S23_Y24insFs
c.69_70insT
1 paper
NM_000217.3
p.H33Y
c.97C>T
1 paper
NM_000217.3
p.H33R
c.98A>G
1 paper
NM_000217.3
p.C35R
c.103T>C
1 paper
NM_000217.3
p.C35Y
c.104G>A
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