Varaico: Literature-Extracted Genetic Variants

Gene:KCNA1
Variant:p.I216T

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.I216T
c.647T>C
Surrounding Variants
1 paper
NM_000217.3
p.N215S
c.644A>G
1 paper
NM_000217.3
p.N215I
c.644A>T
1 paper
NM_000217.3
p.T218R
c.653C>G
1 paper
NM_000217.3
p.S214F
c.641C>T
1 paper
NM_000217.3
p.N213Y
c.637A>T
1 paper
NM_000217.3
p.D219E
c.657C>A
1 paper
NM_000217.3
p.D219E
c.657C>G
1 paper
NM_000217.3
p.Y212C
c.635A>G
1 paper
NM_000217.3
p.I223V
c.667A>G
1 paper
NM_000217.3
p.T209M
c.626C>T
1 paper
NM_000217.3
p.V224L
c.670G>C
1 paper
NM_000217.3
p.V224L
c.670G>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."