Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.I223V

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.I223V
c.667A>G
Surrounding Variants
1 paper
NM_000217.3
p.V224L
c.670G>C
1 paper
NM_000217.3
p.V224L
c.670G>T
21 papers
NM_000217.3
p.T226A
c.676A>G
12 papers
NM_000217.3
p.T226K
c.677C>A
1 paper
NM_000217.3
p.D219E
c.657C>A
31 papers
NM_000217.3
p.T226R
c.677C>G
1 paper
NM_000217.3
p.D219E
c.657C>G
22 papers
NM_000217.3
p.T226M
c.677C>T
1 paper
NM_000217.3
p.T218R
c.653C>G
1 paper
NM_000217.3
p.C228C
c.684T>C
1 paper
NM_000217.3
p.I216T
c.647T>C
1 paper
NM_000217.3
p.N215S
c.644A>G
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