Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.G200R

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
2 papers
NM_000217.3
p.G200R
c.598G>C
Surrounding Variants
1 paper
NM_000217.3
p.G200S
c.598G>A
1 paper
NM_000217.3
p.G200A
c.599G>C
1 paper
NM_000217.3
p.T199M
c.596C>T
1 paper
NM_000217.3
p.V202I
c.604G>A
1 paper
NM_000217.3
p.H203_D206delFs
c.607_616del10
1 paper
NM_000217.3
p.H203Y
c.607C>T
1 paper
NM_000217.3
p.H203R
c.608A>G
1 paper
NM_000217.3
p.K196R
c.587A>G
1 paper
NM_000217.3
p.R204C
c.610C>T
1 paper
NM_000217.3
p.D195E
c.585C>A
1 paper
NM_000217.3
p.D195E
c.585C>G
3 papers
NM_000217.3
p.R204H
c.611G>A
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